Abstract：
BACKGROUND: POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes) syndrome is a rare and complicated disease related to multiple organs and systems. Here, we report a case of systemic mastocytosis (SM) that was misdiagnosed as a POEMS syndrome.
METHODS: A 42-year-old man presented with skin changes, diarrhea, and limb numbness.
METHODS: Positron emission tomography/computed tomography revealed extravascular volume overload, organomegaly, lymphadenopathy, and bone lesions with mixed lesions of osteosclerosis and osteolysis. Therefore, POEMS syndrome was suspected. Further histopathological and immunohistochemical examination of the bone marrow, lymph nodes, and gastric mucosa suggested a diagnosis of mastocytosis. The c-Kit D816V mutation confirmed the diagnosis of SM.
METHODS: The patient received the treatment of pegylated interferon-alpha weekly and glucocorticoid daily.
RESULTS: The symptoms relieved significantly.
CONCLUSIONS: There are many similar features between POEMS syndrome and SM, probably leading to misdiagnosis. This study analyzed the different points between them which can provide help for differentiation.
METHODS: A 42-year-old man presented with skin changes, diarrhea, and limb numbness.
METHODS: Positron emission tomography/computed tomography revealed extravascular volume overload, organomegaly, lymphadenopathy, and bone lesions with mixed lesions of osteosclerosis and osteolysis. Therefore, POEMS syndrome was suspected. Further histopathological and immunohistochemical examination of the bone marrow, lymph nodes, and gastric mucosa suggested a diagnosis of mastocytosis. The c-Kit D816V mutation confirmed the diagnosis of SM.
METHODS: The patient received the treatment of pegylated interferon-alpha weekly and glucocorticoid daily.
RESULTS: The symptoms relieved significantly.
CONCLUSIONS: There are many similar features between POEMS syndrome and SM, probably leading to misdiagnosis. This study analyzed the different points between them which can provide help for differentiation.
摘要：
背景：POEMS（多发性神经病，器官肿大,内分泌病,M蛋白,和皮肤变化）综合征是一种与多个器官和系统有关的罕见且复杂的疾病。这里,我们报告一例系统性肥大细胞增多症(SM),误诊为POEMS综合征.
方法：一名42岁的男性出现皮肤变化，腹泻,四肢麻木.
方法：正电子发射断层扫描/计算机断层扫描显示血管外容量超负荷，器官肿大,淋巴结病，骨病变与骨硬化和骨溶解的混合病变。因此,怀疑POEMS综合征。进一步的骨髓组织病理学和免疫组织化学检查，淋巴结,胃粘膜提示诊断为肥大细胞增多症。c-KitD816V突变证实了SM的诊断。
方法：患者每周接受聚乙二醇化干扰素-α治疗，每日接受糖皮质激素治疗。
结果：症状明显缓解。
结论：POEMS综合征和SM有许多相似的特征，可能会导致误诊。本研究分析了它们之间的不同点，可以为差异化提供帮助。
方法：一名42岁的男性出现皮肤变化，腹泻,四肢麻木.
方法：正电子发射断层扫描/计算机断层扫描显示血管外容量超负荷，器官肿大,淋巴结病，骨病变与骨硬化和骨溶解的混合病变。因此,怀疑POEMS综合征。进一步的骨髓组织病理学和免疫组织化学检查，淋巴结,胃粘膜提示诊断为肥大细胞增多症。c-KitD816V突变证实了SM的诊断。
方法：患者每周接受聚乙二醇化干扰素-α治疗，每日接受糖皮质激素治疗。
结果：症状明显缓解。
结论：POEMS综合征和SM有许多相似的特征，可能会导致误诊。本研究分析了它们之间的不同点，可以为差异化提供帮助。
