A case of systemic mastocytosis mimicking POEMS syndrome A case report

被引:2
|
作者
Hou, Yanqiu [1 ]
Jiang, Suyu [1 ]
Zhang, Lu [1 ]
Wang, Yan [1 ]
Zhang, Liubo [1 ]
Bao, Hongyu [1 ]
Meng, Qingqi [1 ]
Han, Xue [1 ]
Chen, Wanru [1 ]
Li, Tiantian [2 ]
Peng, Jie [2 ]
Zhu, Yilin [2 ]
Huang, Rong [2 ]
Liu, Jingan [2 ]
Wang, Jianning [1 ]
Fang, Chao [3 ]
Shi, Xiaofeng [1 ]
机构
[1] Nanjing Med Univ, Affiliated Hosp 2, 121 Jiangjiayuan, Nanjing 210011, Peoples R China
[2] Jiangsu Univ, Affiliated Hosp, Zhenjiang, Jiangsu, Peoples R China
[3] Huazhong Univ Sci & Technol, Sch Basic Med, Dept Pharmacol, Tongji Med Coll, Wuhan, Peoples R China
基金
中国国家自然科学基金;
关键词
c-Kit mutation; differential diagnosis; pathology; polyneuropathy; organomegaly; endocrinopathy; M protein; and skin changes syndrome; systemic mastocytosis; BONE-LESIONS;
D O I
10.1097/MD.0000000000028651
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Rationale: 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. Patient concerns: A 42-year-old man presented with skin changes, diarrhea, and limb numbness. Diagnoses: 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. Interventions: The patient received the treatment of pegylated interferon-alpha weekly and glucocorticoid daily. Outcomes: The symptoms relieved significantly. Lessons: 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.
引用
收藏
页数:5
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