Second Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Affiliated Hospital of Jiangsu University, Zhenjiang, China.
Medicine (Baltimore). 2022 Feb 4;101(5):e28651. doi: 10.1097/MD.0000000000028651.
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.
A 42-year-old man presented with skin changes, diarrhea, and limb numbness.
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.
The patient received the treatment of pegylated interferon-alpha weekly and glucocorticoid daily.
The symptoms relieved significantly.
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.
POEMS（多发性神经病、器官肿大、内分泌病、M 蛋白和皮肤改变）综合征是一种罕见且复杂的疾病，与多个器官和系统有关。在这里，我们报告了一例误诊为 POEMS 综合征的系统性肥大细胞增多症（SM）病例。
一名 42 岁男性出现皮肤改变、腹泻和四肢麻木。
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、淋巴结病和骨病变，伴有混合性骨硬化和溶骨性病变。因此，怀疑 POEMS 综合征。骨髓、淋巴结和胃黏膜的进一步组织病理学和免疫组织化学检查提示肥大细胞增多症的诊断。c-Kit D816V 突变证实了 SM 的诊断。
患者每周接受聚乙二醇干扰素-α治疗和每日接受糖皮质激素治疗。
症状明显缓解。
POEMS 综合征和 SM 之间有许多相似的特征，可能导致误诊。本研究分析了它们之间的不同点，这可以为鉴别诊断提供帮助。
