Familial Mediterranean fever variant with repeated atypical skin eruptions
Familial Mediterranean fever variant with repeated atypical skin eruptions
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家族性地中海热变异型，伴有反复非典型皮疹
DOI：
10.1111/1346-8138.12929
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发表时间：
2015
期刊：
影响因子：
3.1
通讯作者：
Seishima M
中科院分区：
文献类型：
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作者：
Takahashi T; Fujisawa T; Kimura M; Ohnishi H; Seishima M
家族性地中海热（FMF）的特征是自限性发热和多发性浆膜炎。皮肤受累在FMF中并不常见，丹毒样红斑是最常见的皮疹，通常伴有关节炎和发热，并在12-72小时内消失。我们报告一名40岁的日本女性，她有2年的反复发热史，伴全身疲劳、多关节痛和下肢和躯干一过性斑丘疹。斑丘疹的组织学表现为整个真皮毛细血管周围有淋巴细胞浸润。突变分析显示MEFV存在E148 Q-P369 S杂合突变。这些发现表明诊断为迟发性FMF变异伴非典型皮疹。患者成功接受秋水仙碱治疗。因此，应重视反复出现的不典型皮疹，以便早期发现不典型FMF。
Familial Mediterranean fever (FMF) is characterized by self‐limited bouts of fever and polyserositis. Skin involvement is not common in FMF, and erysipelas‐like erythema is found to be the most frequent skin eruption which is often accompanied by arthritis and fever, and disappears within 12–72 h. We report a 40‐year‐old Japanese woman who presented with a 2‐year history of recurrent fever with general fatigue, polyarthralgia and transient maculopapular eruptions on her lower extremities and trunk. The histological findings of the maculopapular eruption showed lymphocyte infiltration around the capillaries in the entire dermis. Mutation analysis showed a heterozygous E148Q‐P369S mutation ofMEFV. These findings suggested a diagnosis of late‐onset FMF variant with atypical skin eruptions. The patient was successfully treated with colchicine. Thus, we should pay attention to repeated atypical skin eruptions for the early detection of atypical FMF.