Cryopyrin蛋白相关周期性综合征一例

A case of cryopyrin associated periodic syndromes

患者女，29岁。反复面部、躯干弥漫性红斑26年，手、足关节变形14年。皮疹每日发作，伴寒战、低热、眼红、关节痛。体检：身材矮小，面容特殊，呈塌鼻，额部凸出样，双眼结膜充血，面部、躯干弥漫性红斑，手、足关节变形。面部经冷风刺激后，皮疹加重呈典型风团。根据典型症状诊断为Cryopyrin蛋白相关周期性综合征。

A 29-year-old woman was referred to the hospital due to recurrent generalized erythema on the face and trunk for 26 years and joint deformity in the hands and feet for 14 years. The nonpruritic rash occurred every day with low-grade fever, chill, eye redness and arthralgia. Physical examination revealed growth retardation, characteristic facial appearance with a saddle back nose and frontal bossing, conjunctival congestion of both eyes, diffused erythema on the face and trunk and joint deformity. After her face was exposed to artificial cold wind, the rash worsened and turned into typical wheals. According to the typical clinical manifestation, this case was diagnosed as cryopyrin associated periodic syndromes.