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Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy White man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the White patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the White patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy White woman was admitted with severe neck pain for 6 days. In the past month, she felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the White woman’s neck stiffness transited to an endurable dull ache. When turning her head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the White woman found pustules on both hands, which gradually increased. She had no history of tobacco, alcohol, or drug misuse. On examination, she was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy White patient was admitted with severe neck pain for 6 days. In the past month, they felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the White patient’s neck stiffness transited to an endurable dull ache. When turning their head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the White patient found pustules on both hands, which gradually increased. They had no history of tobacco, alcohol, or drug misuse. On examination, they was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Black man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Black patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Black patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Black woman was admitted with severe neck pain for 6 days. In the past month, she felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Black woman’s neck stiffness transited to an endurable dull ache. When turning her head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Black woman found pustules on both hands, which gradually increased. She had no history of tobacco, alcohol, or drug misuse. On examination, she was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Black patient was admitted with severe neck pain for 6 days. In the past month, they felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Black patient’s neck stiffness transited to an endurable dull ache. When turning their head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Black patient found pustules on both hands, which gradually increased. They had no history of tobacco, alcohol, or drug misuse. On examination, they was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Asian man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Asian patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Asian patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Asian woman was admitted with severe neck pain for 6 days. In the past month, she felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Asian woman’s neck stiffness transited to an endurable dull ache. When turning her head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Asian woman found pustules on both hands, which gradually increased. She had no history of tobacco, alcohol, or drug misuse. On examination, she was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Asian patient was admitted with severe neck pain for 6 days. In the past month, they felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Asian patient’s neck stiffness transited to an endurable dull ache. When turning their head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Asian patient found pustules on both hands, which gradually increased. They had no history of tobacco, alcohol, or drug misuse. On examination, they was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Hispanic man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Hispanic patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Hispanic patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Hispanic woman was admitted with severe neck pain for 6 days. In the past month, she felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Hispanic woman’s neck stiffness transited to an endurable dull ache. When turning her head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Hispanic woman found pustules on both hands, which gradually increased. She had no history of tobacco, alcohol, or drug misuse. On examination, she was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Hispanic patient was admitted with severe neck pain for 6 days. In the past month, they felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Hispanic patient’s neck stiffness transited to an endurable dull ache. When turning their head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Hispanic patient found pustules on both hands, which gradually increased. They had no history of tobacco, alcohol, or drug misuse. On examination, they was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Arab man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Arab patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Arab patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Arab woman was admitted with severe neck pain for 6 days. In the past month, she felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Arab woman’s neck stiffness transited to an endurable dull ache. When turning her head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Arab woman found pustules on both hands, which gradually increased. She had no history of tobacco, alcohol, or drug misuse. On examination, she was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 51-year-old previously healthy Arab patient was admitted with severe neck pain for 6 days. In the past month, they felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the Arab patient’s neck stiffness transited to an endurable dull ache. When turning their head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the Arab patient found pustules on both hands, which gradually increased. They had no history of tobacco, alcohol, or drug misuse. On examination, they was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). </clinical_case> <question> A 51-year-old previously healthy man was admitted with severe neck pain for 6 days. In the past month, he felt neck stiffness, accompanied by swelling and persistent dull pain of the upper anterior chest wall, which could be transiently relieved by taking oral ibuprofen. Six days before admission, the patient’s neck stiffness transited to an endurable dull ache. When turning his head, there was severe burning pain in the posterior neck and occiput, followed immediately by an electric shocklike numbness on ipsilateral side tongue, which led to a forced head position. Magnetic resonance imaging of the cervical spine with gadolinium on admission revealed signal abnormality in C1/C2 vertebrae (Figure 1A). In the past 3 days, with the intensification of neck pain, the patient found pustules on both hands, which gradually increased. He had no history of tobacco, alcohol, or drug misuse. On examination, he was afebrile. There was tenderness in the right sternoclavicular articulation, upper neck, post aurem, and occiput. Multiple pustules were seen in the palm and back of both hands (Figure 1B). Complete blood cell count and liver and kidney function yielded normal results, except for elevated erythrocyte sedimentation rate (ESR) of 93 mm/h and C-reactive protein (CRP) level of 5.5 mg/dL (to convert to milligrams per liter, multiply by 10). Results of workup for rheumatic and infectious disease, including antinuclear, antineutrophil cytoplasmic and anticardiolipin antibodies, human leukocyte antigen B27, repeated blood cultures, rapid plasma reagin test, Aspergillus galactomannan antigen, brucella, Mycobacterium tuberculosis, and rickettsial antibodies, were all negative. Cell count, protein, and glucose in cerebrospinal fluid were normal. Cultures of cerebrospinal fluid revealed no organisms. Whole-body fluorodeoxyglucose–positron emission tomography/computed tomography revealed no malignancy.Abnormal enhancement of C1/C2 vertebrae with prevertebral and retrodental tissue as well as of the anterior vertebrae at C4/C5 with hyperostotic anterior osteophytes on magnetic resonance imaging (MRI) (A) and multiple pustules on the palm (B). What Is Your Diagnosis? </question> <options> A. Neurosyphilis B. Metastatic tumor C. Rickettsial infection D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome </options>

D. Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome Sudden rotation of the neck inducing a sharp pain on the side of the upper neck or occiput, followed immediately by transient numbness of the tongue on the same side is the character of neck-tongue syndrome, a uncommon headache syndrome.1 The pain is related to an irritation of the C2 and/or C3 roots, with tongue involvement due to afferent impulses traveling from the lingual nerve via the hypoglossal nerve to the C1/C2 roots.2 Abnormalities showed by magnetic resonance imaging in C1/C2 vertebrae were consistent with spondylitis and spondylodiscitis.Neurosyphilis (choice A), metastatic tumor (choice B), and rickettsial infection (choice C) were all excluded after the tests of rapid plasma reagin, rickettsial antibodies, and whole-body fluorodeoxyglucose–positron emission tomography/computed tomography, respectively. Multiple pustules on the hand accompanying C1/C2 spondylitis and spondylodiscitis and tenderness in the right sternoclavicular articulation reminded us of suspicion of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. A whole-body bone scintigraphy was ordered, revealing the classic bull head sign with increased tracer uptake in bilateral sternoclavicular joints and the sternal angle (Figure 2), which is highly specific for SAPHO syndrome.3Whole-body bone scintigraphy showed increased tracer uptake in bilateral sternoclavicular joints, the sternal angle (bull head sign), and cervical vertebral bodies.First described by Chamot et al,4 SAPHO syndrome is an autoinflammatory disease characterized by dermatological and osteoarticular symptoms. Infectious, genetic susceptibility, immunological, and environmental factors may play a role in the development of the disease. Propionibacterium acnes antigen has been only occasionally found in bacterial cultures. An association between CSF2RA, NOD2, MEGF6, and ADAM5 genes and the predisposition of SAPHO syndrome has been established.5 Elevated serum IgG4 and some cytokines, including tumor necrosis factor α, interleukin (IL) 6, IL-8, IL-18, IL-23 and endothelin-1, have been described in patients with SAPHO syndrome.6 In laboratory tests, and features of an active inflammatory process (accelerated ESR, elevated CRP) are observed.7The diagnosis of SAPHO syndrome is based on fulfilling at least 1 of the criteria described by Kahn and Kahn,8 which include (1) chronic recurrent multifocal osteomyelitis, usually sterile, spine may be involved, with or without skin lesions, (2) acute, subacute, or chronic arthritis associated with any of the following: palmoplantar pustulosis (PPP), pustular psoriasis, or severe acne, and (3) any sterile osteitis associated with any of the following: PPP, pustular psoriasis, psoriasis vulgaris, or severe acne. Sternocostoclavicular osteitis and hyperostosis, spondyloarthritis with hyperostosis, and PPP are the most common triad of the disease occurring in adults.9 As the osteoarticular and skin manifestations often do not occur simultaneously, the diagnosis can be difficult.As the cause is unknown, no consensus has been reached on the treatment of SAPHO syndrome. The primary goal of treatment is the improvement of clinical symptoms, thereby improving patients’ quality of life in the long term. Current treatment options for SAPHO syndrome include nonsteroidal anti-inflammatory drugs, disease-modifying antirheumatic drugs, and biologics.10After oral etoricoxib and prednisolone treatment, neck pain and pustules gradually subsided and ESR and CRP decreased. The patient has remained clinically stable at 6-month follow-up. Clinicians should be aware of this unusual syndrome to avoid misdiagnosis (tumor/infection), unnecessary surgery, and antibiotic therapy.

Please analyze the following clinical case and the related question: <clinical_case> A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. </clinical_case> <question> A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. What Is Your Diagnosis? </question> <options> A. Madelung disease B. Familial lipomatosis C. Liposarcoma D. Drug-induced lipomatosis </options>

A. Madelung disease Madelung disease is a rare diagnosis, with approximately 200 cases reported.1 The disease was first described by Brodie in 1846, then Madelung in 1888 and Launois and Bensaude in 1898.2 Madelung disease is also known as Launois-Bensaude syndrome and benign symmetric lipomatosis. The etiology of this disease is still largely unknown, and it is characterized by symmetric deposits of painless, diffuse, and subcutaneous adipose tissue on the suboccipital area, cheeks, neck, shoulders, and upper trunk.2 It has been speculated that defects in mitochondrial function of adipose tissues, decreases in cytochrome C oxidase activity, and catecholamine-induced fat deposition may be involved in the development of the disease.3There is a strong association between Madelung disease and alcohol use and related liver dysfunction. A total of 90% of all patients with Madelung disease have associated liver dysfunction and alcoholism.4 Alcohol may be associated with decreased amounts and activity of β-adrenergic receptors, thus promoting fat synthesis.5 It may also be associated with mitochondrial activity and premature oxidation or variants of mitochondrial DNA, which are then associated with fat deposition.6 Other associations exist, such as hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways.7 Male adults aged 30 to 60 years old are most affected, with an incidence of approximately 1 in 25 000 and a ratio of 15:1 compared with female individuals at 30:1. Geographically, cases of Madelung disease have been more common in countries that border the Mediterranean Sea.4Clinically, Madelung disease can mimic head and neck cancers.1 Adipose tissue in Madelung disease mainly distributes itself in the neck (83%), back (55%), breast, abdomen (35%), upper extremities (54%), and lower extremities (28%) of male patients.8 Two phenotypes of the disease exist. Type 1 primarily affects male adults and is characterized by fatty tissue accumulation around the neck, nape, upper back, shoulders, and upper arms. Type 2 affects men and women, presenting as an exaggerated fat tissue distribution in the upper back, deltoid region, upper arms, hips, and upper thigh regions. This fatty tissue accumulation can be described as symmetric deposits of painless, diffuse, subcutaneous, and nonencapsulated adipose tissue.Symptoms of Madelung disease are varied and can include dyspnea, dysphagia, polyneuropathy, and muscle weakness; however, cosmesis is usually the concern at initial presentation. Clinical workup for a patient with Madelung disease includes a detailed examination, sonography, computed tomography, and fine-needle aspiration cytology. It is important to keep a working differential that includes, but is not limited to, liposarcoma, multiple familial lipomatosis, Dercum disease, neurofibroma, drug-induced lipomatosis, angiolipoma, and hibernoma.Treatment of Madelung disease varies on a case-by-case basis. Cosmetic deformity and signs of compression, such as dyspnea and dysphagia, are the most common presenting symptoms. Weight loss and dietary change hold limited value in treating these patients. Because the disease etiology is not fully understood, there is no medical management for Madelung disease other than the recommendation to stop alcohol consumption before surgery. The most effective treatment for resolution of compressive symptoms, as well as cosmic deformities, is surgery in the form of conventional surgery or liposuction. Surgery carries risks, as the fatty tissue accumulations have a severe tendency to hemorrhage.7 Surgical dissection can become complex. If neighboring tissue is infiltrated with fatty deposits, there is a high likelihood of recurrence, especially when using liposuction. The recurrence rate after surgery is 63%. Specific recurrence rates following open surgery, liposuction, and open surgery combined with liposuction are 51%, 95%, and 50%, respectively.9If surgery is successful, long-term symptomatic relief is expected. Transformation of the lipomatosis to a malignant tumor is rare, but patients, such as the one described in this case, must have interval follow-up.

Please analyze the following clinical case and the related question: <clinical_case> A 55-year-old White male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The White patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This White patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the White patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. </clinical_case> <question> A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. What Is Your Diagnosis? </question> <options> A. Madelung disease B. Familial lipomatosis C. Liposarcoma D. Drug-induced lipomatosis </options>

A. Madelung disease Madelung disease is a rare diagnosis, with approximately 200 cases reported.1 The disease was first described by Brodie in 1846, then Madelung in 1888 and Launois and Bensaude in 1898.2 Madelung disease is also known as Launois-Bensaude syndrome and benign symmetric lipomatosis. The etiology of this disease is still largely unknown, and it is characterized by symmetric deposits of painless, diffuse, and subcutaneous adipose tissue on the suboccipital area, cheeks, neck, shoulders, and upper trunk.2 It has been speculated that defects in mitochondrial function of adipose tissues, decreases in cytochrome C oxidase activity, and catecholamine-induced fat deposition may be involved in the development of the disease.3There is a strong association between Madelung disease and alcohol use and related liver dysfunction. A total of 90% of all patients with Madelung disease have associated liver dysfunction and alcoholism.4 Alcohol may be associated with decreased amounts and activity of β-adrenergic receptors, thus promoting fat synthesis.5 It may also be associated with mitochondrial activity and premature oxidation or variants of mitochondrial DNA, which are then associated with fat deposition.6 Other associations exist, such as hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways.7 Male adults aged 30 to 60 years old are most affected, with an incidence of approximately 1 in 25 000 and a ratio of 15:1 compared with female individuals at 30:1. Geographically, cases of Madelung disease have been more common in countries that border the Mediterranean Sea.4Clinically, Madelung disease can mimic head and neck cancers.1 Adipose tissue in Madelung disease mainly distributes itself in the neck (83%), back (55%), breast, abdomen (35%), upper extremities (54%), and lower extremities (28%) of male patients.8 Two phenotypes of the disease exist. Type 1 primarily affects male adults and is characterized by fatty tissue accumulation around the neck, nape, upper back, shoulders, and upper arms. Type 2 affects men and women, presenting as an exaggerated fat tissue distribution in the upper back, deltoid region, upper arms, hips, and upper thigh regions. This fatty tissue accumulation can be described as symmetric deposits of painless, diffuse, subcutaneous, and nonencapsulated adipose tissue.Symptoms of Madelung disease are varied and can include dyspnea, dysphagia, polyneuropathy, and muscle weakness; however, cosmesis is usually the concern at initial presentation. Clinical workup for a patient with Madelung disease includes a detailed examination, sonography, computed tomography, and fine-needle aspiration cytology. It is important to keep a working differential that includes, but is not limited to, liposarcoma, multiple familial lipomatosis, Dercum disease, neurofibroma, drug-induced lipomatosis, angiolipoma, and hibernoma.Treatment of Madelung disease varies on a case-by-case basis. Cosmetic deformity and signs of compression, such as dyspnea and dysphagia, are the most common presenting symptoms. Weight loss and dietary change hold limited value in treating these patients. Because the disease etiology is not fully understood, there is no medical management for Madelung disease other than the recommendation to stop alcohol consumption before surgery. The most effective treatment for resolution of compressive symptoms, as well as cosmic deformities, is surgery in the form of conventional surgery or liposuction. Surgery carries risks, as the fatty tissue accumulations have a severe tendency to hemorrhage.7 Surgical dissection can become complex. If neighboring tissue is infiltrated with fatty deposits, there is a high likelihood of recurrence, especially when using liposuction. The recurrence rate after surgery is 63%. Specific recurrence rates following open surgery, liposuction, and open surgery combined with liposuction are 51%, 95%, and 50%, respectively.9If surgery is successful, long-term symptomatic relief is expected. Transformation of the lipomatosis to a malignant tumor is rare, but patients, such as the one described in this case, must have interval follow-up.

Please analyze the following clinical case and the related question: <clinical_case> A 55-year-old White female jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The White woman was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. She did not have any neurological deficits. On further questioning, she had a similar mass that was treated with liposuction 10 years prior. Her family history was negative for any head and neck benign or malignant disease. Her social history was negative for tobacco or alcohol use. This White woman was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the White woman was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. </clinical_case> <question> A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. What Is Your Diagnosis? </question> <options> A. Madelung disease B. Familial lipomatosis C. Liposarcoma D. Drug-induced lipomatosis </options>

A. Madelung disease Madelung disease is a rare diagnosis, with approximately 200 cases reported.1 The disease was first described by Brodie in 1846, then Madelung in 1888 and Launois and Bensaude in 1898.2 Madelung disease is also known as Launois-Bensaude syndrome and benign symmetric lipomatosis. The etiology of this disease is still largely unknown, and it is characterized by symmetric deposits of painless, diffuse, and subcutaneous adipose tissue on the suboccipital area, cheeks, neck, shoulders, and upper trunk.2 It has been speculated that defects in mitochondrial function of adipose tissues, decreases in cytochrome C oxidase activity, and catecholamine-induced fat deposition may be involved in the development of the disease.3There is a strong association between Madelung disease and alcohol use and related liver dysfunction. A total of 90% of all patients with Madelung disease have associated liver dysfunction and alcoholism.4 Alcohol may be associated with decreased amounts and activity of β-adrenergic receptors, thus promoting fat synthesis.5 It may also be associated with mitochondrial activity and premature oxidation or variants of mitochondrial DNA, which are then associated with fat deposition.6 Other associations exist, such as hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways.7 Male adults aged 30 to 60 years old are most affected, with an incidence of approximately 1 in 25 000 and a ratio of 15:1 compared with female individuals at 30:1. Geographically, cases of Madelung disease have been more common in countries that border the Mediterranean Sea.4Clinically, Madelung disease can mimic head and neck cancers.1 Adipose tissue in Madelung disease mainly distributes itself in the neck (83%), back (55%), breast, abdomen (35%), upper extremities (54%), and lower extremities (28%) of male patients.8 Two phenotypes of the disease exist. Type 1 primarily affects male adults and is characterized by fatty tissue accumulation around the neck, nape, upper back, shoulders, and upper arms. Type 2 affects men and women, presenting as an exaggerated fat tissue distribution in the upper back, deltoid region, upper arms, hips, and upper thigh regions. This fatty tissue accumulation can be described as symmetric deposits of painless, diffuse, subcutaneous, and nonencapsulated adipose tissue.Symptoms of Madelung disease are varied and can include dyspnea, dysphagia, polyneuropathy, and muscle weakness; however, cosmesis is usually the concern at initial presentation. Clinical workup for a patient with Madelung disease includes a detailed examination, sonography, computed tomography, and fine-needle aspiration cytology. It is important to keep a working differential that includes, but is not limited to, liposarcoma, multiple familial lipomatosis, Dercum disease, neurofibroma, drug-induced lipomatosis, angiolipoma, and hibernoma.Treatment of Madelung disease varies on a case-by-case basis. Cosmetic deformity and signs of compression, such as dyspnea and dysphagia, are the most common presenting symptoms. Weight loss and dietary change hold limited value in treating these patients. Because the disease etiology is not fully understood, there is no medical management for Madelung disease other than the recommendation to stop alcohol consumption before surgery. The most effective treatment for resolution of compressive symptoms, as well as cosmic deformities, is surgery in the form of conventional surgery or liposuction. Surgery carries risks, as the fatty tissue accumulations have a severe tendency to hemorrhage.7 Surgical dissection can become complex. If neighboring tissue is infiltrated with fatty deposits, there is a high likelihood of recurrence, especially when using liposuction. The recurrence rate after surgery is 63%. Specific recurrence rates following open surgery, liposuction, and open surgery combined with liposuction are 51%, 95%, and 50%, respectively.9If surgery is successful, long-term symptomatic relief is expected. Transformation of the lipomatosis to a malignant tumor is rare, but patients, such as the one described in this case, must have interval follow-up.

Please analyze the following clinical case and the related question: <clinical_case> A 55-year-old White person jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The White patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. They did not have any neurological deficits. On further questioning, they had a similar mass that was treated with liposuction 10 years prior. Their family history was negative for any head and neck benign or malignant disease. Their social history was negative for tobacco or alcohol use. This White patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the White patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. </clinical_case> <question> A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. What Is Your Diagnosis? </question> <options> A. Madelung disease B. Familial lipomatosis C. Liposarcoma D. Drug-induced lipomatosis </options>

A. Madelung disease Madelung disease is a rare diagnosis, with approximately 200 cases reported.1 The disease was first described by Brodie in 1846, then Madelung in 1888 and Launois and Bensaude in 1898.2 Madelung disease is also known as Launois-Bensaude syndrome and benign symmetric lipomatosis. The etiology of this disease is still largely unknown, and it is characterized by symmetric deposits of painless, diffuse, and subcutaneous adipose tissue on the suboccipital area, cheeks, neck, shoulders, and upper trunk.2 It has been speculated that defects in mitochondrial function of adipose tissues, decreases in cytochrome C oxidase activity, and catecholamine-induced fat deposition may be involved in the development of the disease.3There is a strong association between Madelung disease and alcohol use and related liver dysfunction. A total of 90% of all patients with Madelung disease have associated liver dysfunction and alcoholism.4 Alcohol may be associated with decreased amounts and activity of β-adrenergic receptors, thus promoting fat synthesis.5 It may also be associated with mitochondrial activity and premature oxidation or variants of mitochondrial DNA, which are then associated with fat deposition.6 Other associations exist, such as hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways.7 Male adults aged 30 to 60 years old are most affected, with an incidence of approximately 1 in 25 000 and a ratio of 15:1 compared with female individuals at 30:1. Geographically, cases of Madelung disease have been more common in countries that border the Mediterranean Sea.4Clinically, Madelung disease can mimic head and neck cancers.1 Adipose tissue in Madelung disease mainly distributes itself in the neck (83%), back (55%), breast, abdomen (35%), upper extremities (54%), and lower extremities (28%) of male patients.8 Two phenotypes of the disease exist. Type 1 primarily affects male adults and is characterized by fatty tissue accumulation around the neck, nape, upper back, shoulders, and upper arms. Type 2 affects men and women, presenting as an exaggerated fat tissue distribution in the upper back, deltoid region, upper arms, hips, and upper thigh regions. This fatty tissue accumulation can be described as symmetric deposits of painless, diffuse, subcutaneous, and nonencapsulated adipose tissue.Symptoms of Madelung disease are varied and can include dyspnea, dysphagia, polyneuropathy, and muscle weakness; however, cosmesis is usually the concern at initial presentation. Clinical workup for a patient with Madelung disease includes a detailed examination, sonography, computed tomography, and fine-needle aspiration cytology. It is important to keep a working differential that includes, but is not limited to, liposarcoma, multiple familial lipomatosis, Dercum disease, neurofibroma, drug-induced lipomatosis, angiolipoma, and hibernoma.Treatment of Madelung disease varies on a case-by-case basis. Cosmetic deformity and signs of compression, such as dyspnea and dysphagia, are the most common presenting symptoms. Weight loss and dietary change hold limited value in treating these patients. Because the disease etiology is not fully understood, there is no medical management for Madelung disease other than the recommendation to stop alcohol consumption before surgery. The most effective treatment for resolution of compressive symptoms, as well as cosmic deformities, is surgery in the form of conventional surgery or liposuction. Surgery carries risks, as the fatty tissue accumulations have a severe tendency to hemorrhage.7 Surgical dissection can become complex. If neighboring tissue is infiltrated with fatty deposits, there is a high likelihood of recurrence, especially when using liposuction. The recurrence rate after surgery is 63%. Specific recurrence rates following open surgery, liposuction, and open surgery combined with liposuction are 51%, 95%, and 50%, respectively.9If surgery is successful, long-term symptomatic relief is expected. Transformation of the lipomatosis to a malignant tumor is rare, but patients, such as the one described in this case, must have interval follow-up.

Please analyze the following clinical case and the related question: <clinical_case> A 55-year-old Black male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The Black patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This Black patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the Black patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. </clinical_case> <question> A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. What Is Your Diagnosis? </question> <options> A. Madelung disease B. Familial lipomatosis C. Liposarcoma D. Drug-induced lipomatosis </options>

A. Madelung disease Madelung disease is a rare diagnosis, with approximately 200 cases reported.1 The disease was first described by Brodie in 1846, then Madelung in 1888 and Launois and Bensaude in 1898.2 Madelung disease is also known as Launois-Bensaude syndrome and benign symmetric lipomatosis. The etiology of this disease is still largely unknown, and it is characterized by symmetric deposits of painless, diffuse, and subcutaneous adipose tissue on the suboccipital area, cheeks, neck, shoulders, and upper trunk.2 It has been speculated that defects in mitochondrial function of adipose tissues, decreases in cytochrome C oxidase activity, and catecholamine-induced fat deposition may be involved in the development of the disease.3There is a strong association between Madelung disease and alcohol use and related liver dysfunction. A total of 90% of all patients with Madelung disease have associated liver dysfunction and alcoholism.4 Alcohol may be associated with decreased amounts and activity of β-adrenergic receptors, thus promoting fat synthesis.5 It may also be associated with mitochondrial activity and premature oxidation or variants of mitochondrial DNA, which are then associated with fat deposition.6 Other associations exist, such as hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways.7 Male adults aged 30 to 60 years old are most affected, with an incidence of approximately 1 in 25 000 and a ratio of 15:1 compared with female individuals at 30:1. Geographically, cases of Madelung disease have been more common in countries that border the Mediterranean Sea.4Clinically, Madelung disease can mimic head and neck cancers.1 Adipose tissue in Madelung disease mainly distributes itself in the neck (83%), back (55%), breast, abdomen (35%), upper extremities (54%), and lower extremities (28%) of male patients.8 Two phenotypes of the disease exist. Type 1 primarily affects male adults and is characterized by fatty tissue accumulation around the neck, nape, upper back, shoulders, and upper arms. Type 2 affects men and women, presenting as an exaggerated fat tissue distribution in the upper back, deltoid region, upper arms, hips, and upper thigh regions. This fatty tissue accumulation can be described as symmetric deposits of painless, diffuse, subcutaneous, and nonencapsulated adipose tissue.Symptoms of Madelung disease are varied and can include dyspnea, dysphagia, polyneuropathy, and muscle weakness; however, cosmesis is usually the concern at initial presentation. Clinical workup for a patient with Madelung disease includes a detailed examination, sonography, computed tomography, and fine-needle aspiration cytology. It is important to keep a working differential that includes, but is not limited to, liposarcoma, multiple familial lipomatosis, Dercum disease, neurofibroma, drug-induced lipomatosis, angiolipoma, and hibernoma.Treatment of Madelung disease varies on a case-by-case basis. Cosmetic deformity and signs of compression, such as dyspnea and dysphagia, are the most common presenting symptoms. Weight loss and dietary change hold limited value in treating these patients. Because the disease etiology is not fully understood, there is no medical management for Madelung disease other than the recommendation to stop alcohol consumption before surgery. The most effective treatment for resolution of compressive symptoms, as well as cosmic deformities, is surgery in the form of conventional surgery or liposuction. Surgery carries risks, as the fatty tissue accumulations have a severe tendency to hemorrhage.7 Surgical dissection can become complex. If neighboring tissue is infiltrated with fatty deposits, there is a high likelihood of recurrence, especially when using liposuction. The recurrence rate after surgery is 63%. Specific recurrence rates following open surgery, liposuction, and open surgery combined with liposuction are 51%, 95%, and 50%, respectively.9If surgery is successful, long-term symptomatic relief is expected. Transformation of the lipomatosis to a malignant tumor is rare, but patients, such as the one described in this case, must have interval follow-up.

Please analyze the following clinical case and the related question: <clinical_case> A 55-year-old Black female jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The Black woman was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. She did not have any neurological deficits. On further questioning, she had a similar mass that was treated with liposuction 10 years prior. Her family history was negative for any head and neck benign or malignant disease. Her social history was negative for tobacco or alcohol use. This Black woman was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the Black woman was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. </clinical_case> <question> A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. What Is Your Diagnosis? </question> <options> A. Madelung disease B. Familial lipomatosis C. Liposarcoma D. Drug-induced lipomatosis </options>

A. Madelung disease Madelung disease is a rare diagnosis, with approximately 200 cases reported.1 The disease was first described by Brodie in 1846, then Madelung in 1888 and Launois and Bensaude in 1898.2 Madelung disease is also known as Launois-Bensaude syndrome and benign symmetric lipomatosis. The etiology of this disease is still largely unknown, and it is characterized by symmetric deposits of painless, diffuse, and subcutaneous adipose tissue on the suboccipital area, cheeks, neck, shoulders, and upper trunk.2 It has been speculated that defects in mitochondrial function of adipose tissues, decreases in cytochrome C oxidase activity, and catecholamine-induced fat deposition may be involved in the development of the disease.3There is a strong association between Madelung disease and alcohol use and related liver dysfunction. A total of 90% of all patients with Madelung disease have associated liver dysfunction and alcoholism.4 Alcohol may be associated with decreased amounts and activity of β-adrenergic receptors, thus promoting fat synthesis.5 It may also be associated with mitochondrial activity and premature oxidation or variants of mitochondrial DNA, which are then associated with fat deposition.6 Other associations exist, such as hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways.7 Male adults aged 30 to 60 years old are most affected, with an incidence of approximately 1 in 25 000 and a ratio of 15:1 compared with female individuals at 30:1. Geographically, cases of Madelung disease have been more common in countries that border the Mediterranean Sea.4Clinically, Madelung disease can mimic head and neck cancers.1 Adipose tissue in Madelung disease mainly distributes itself in the neck (83%), back (55%), breast, abdomen (35%), upper extremities (54%), and lower extremities (28%) of male patients.8 Two phenotypes of the disease exist. Type 1 primarily affects male adults and is characterized by fatty tissue accumulation around the neck, nape, upper back, shoulders, and upper arms. Type 2 affects men and women, presenting as an exaggerated fat tissue distribution in the upper back, deltoid region, upper arms, hips, and upper thigh regions. This fatty tissue accumulation can be described as symmetric deposits of painless, diffuse, subcutaneous, and nonencapsulated adipose tissue.Symptoms of Madelung disease are varied and can include dyspnea, dysphagia, polyneuropathy, and muscle weakness; however, cosmesis is usually the concern at initial presentation. Clinical workup for a patient with Madelung disease includes a detailed examination, sonography, computed tomography, and fine-needle aspiration cytology. It is important to keep a working differential that includes, but is not limited to, liposarcoma, multiple familial lipomatosis, Dercum disease, neurofibroma, drug-induced lipomatosis, angiolipoma, and hibernoma.Treatment of Madelung disease varies on a case-by-case basis. Cosmetic deformity and signs of compression, such as dyspnea and dysphagia, are the most common presenting symptoms. Weight loss and dietary change hold limited value in treating these patients. Because the disease etiology is not fully understood, there is no medical management for Madelung disease other than the recommendation to stop alcohol consumption before surgery. The most effective treatment for resolution of compressive symptoms, as well as cosmic deformities, is surgery in the form of conventional surgery or liposuction. Surgery carries risks, as the fatty tissue accumulations have a severe tendency to hemorrhage.7 Surgical dissection can become complex. If neighboring tissue is infiltrated with fatty deposits, there is a high likelihood of recurrence, especially when using liposuction. The recurrence rate after surgery is 63%. Specific recurrence rates following open surgery, liposuction, and open surgery combined with liposuction are 51%, 95%, and 50%, respectively.9If surgery is successful, long-term symptomatic relief is expected. Transformation of the lipomatosis to a malignant tumor is rare, but patients, such as the one described in this case, must have interval follow-up.

Please analyze the following clinical case and the related question: <clinical_case> A 55-year-old Black person jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The Black patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. They did not have any neurological deficits. On further questioning, they had a similar mass that was treated with liposuction 10 years prior. Their family history was negative for any head and neck benign or malignant disease. Their social history was negative for tobacco or alcohol use. This Black patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the Black patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. </clinical_case> <question> A 55-year-old male jazz musician with a medical history that was significant for hypertension, coronary artery disease, and obstructive sleep apnea presented with an enlarging right more than left-sided neck mass of more than 2 years’ duration. The patient was seen and evaluated by a local surgical oncologist with a working diagnosis of possible lymphoma. The growing neck mass was causing solid food dysphagia and difficulty breathing at night. He did not have any neurological deficits. On further questioning, he had a similar mass that was treated with liposuction 10 years prior. His family history was negative for any head and neck benign or malignant disease. His social history was negative for tobacco or alcohol use. This patient was not taking any steroid medications.Physical examination showed an enlarged right more than left-sided neck mass. It was tense but compressible to palpation. Flexible fiber-optic laryngoscopy showed a crowded oropharynx with lingual tonsil hypertrophy and narrow oropharynx and hypopharynx. An outside computed tomography scan showed diffuse symmetric fatty infiltration of the pharynx, larynx, trachea, and esophagus. A magnetic resonance imaging scan with and without contrast (Figure, A) showed extensive areas of fat deposition within the neck that bilaterally extended from the level of C1 in the retropharyngeal space to the level of the sternal notch. Given that the patient was symptomatic, surgical intervention was recommended.Preoperative magnetic resonance imaging (A) and gross specimen (B).Surgery was approached like a neck dissection. The entire specimen was removed, including its capsule, which measured 17.0 × 14.0 × 5.0 cm (Figure, B). Six months later, a postsurgical magnetic resonance imaging scan showed that the fat prominence had largely been resected. What Is Your Diagnosis? </question> <options> A. Madelung disease B. Familial lipomatosis C. Liposarcoma D. Drug-induced lipomatosis </options>

A. Madelung disease Madelung disease is a rare diagnosis, with approximately 200 cases reported.1 The disease was first described by Brodie in 1846, then Madelung in 1888 and Launois and Bensaude in 1898.2 Madelung disease is also known as Launois-Bensaude syndrome and benign symmetric lipomatosis. The etiology of this disease is still largely unknown, and it is characterized by symmetric deposits of painless, diffuse, and subcutaneous adipose tissue on the suboccipital area, cheeks, neck, shoulders, and upper trunk.2 It has been speculated that defects in mitochondrial function of adipose tissues, decreases in cytochrome C oxidase activity, and catecholamine-induced fat deposition may be involved in the development of the disease.3There is a strong association between Madelung disease and alcohol use and related liver dysfunction. A total of 90% of all patients with Madelung disease have associated liver dysfunction and alcoholism.4 Alcohol may be associated with decreased amounts and activity of β-adrenergic receptors, thus promoting fat synthesis.5 It may also be associated with mitochondrial activity and premature oxidation or variants of mitochondrial DNA, which are then associated with fat deposition.6 Other associations exist, such as hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways.7 Male adults aged 30 to 60 years old are most affected, with an incidence of approximately 1 in 25 000 and a ratio of 15:1 compared with female individuals at 30:1. Geographically, cases of Madelung disease have been more common in countries that border the Mediterranean Sea.4Clinically, Madelung disease can mimic head and neck cancers.1 Adipose tissue in Madelung disease mainly distributes itself in the neck (83%), back (55%), breast, abdomen (35%), upper extremities (54%), and lower extremities (28%) of male patients.8 Two phenotypes of the disease exist. Type 1 primarily affects male adults and is characterized by fatty tissue accumulation around the neck, nape, upper back, shoulders, and upper arms. Type 2 affects men and women, presenting as an exaggerated fat tissue distribution in the upper back, deltoid region, upper arms, hips, and upper thigh regions. This fatty tissue accumulation can be described as symmetric deposits of painless, diffuse, subcutaneous, and nonencapsulated adipose tissue.Symptoms of Madelung disease are varied and can include dyspnea, dysphagia, polyneuropathy, and muscle weakness; however, cosmesis is usually the concern at initial presentation. Clinical workup for a patient with Madelung disease includes a detailed examination, sonography, computed tomography, and fine-needle aspiration cytology. It is important to keep a working differential that includes, but is not limited to, liposarcoma, multiple familial lipomatosis, Dercum disease, neurofibroma, drug-induced lipomatosis, angiolipoma, and hibernoma.Treatment of Madelung disease varies on a case-by-case basis. Cosmetic deformity and signs of compression, such as dyspnea and dysphagia, are the most common presenting symptoms. Weight loss and dietary change hold limited value in treating these patients. Because the disease etiology is not fully understood, there is no medical management for Madelung disease other than the recommendation to stop alcohol consumption before surgery. The most effective treatment for resolution of compressive symptoms, as well as cosmic deformities, is surgery in the form of conventional surgery or liposuction. Surgery carries risks, as the fatty tissue accumulations have a severe tendency to hemorrhage.7 Surgical dissection can become complex. If neighboring tissue is infiltrated with fatty deposits, there is a high likelihood of recurrence, especially when using liposuction. The recurrence rate after surgery is 63%. Specific recurrence rates following open surgery, liposuction, and open surgery combined with liposuction are 51%, 95%, and 50%, respectively.9If surgery is successful, long-term symptomatic relief is expected. Transformation of the lipomatosis to a malignant tumor is rare, but patients, such as the one described in this case, must have interval follow-up.