FGFR3基因变异导致鱼鳞病样表现的家族性黑棘皮病1例  

Familial Acanthosis Nigricans Showing Ichthyosiform Appearance Due to FGFR3 Gene Mutation:A Case Report

作　　者：宋德宇 李焰梅 李仲桃 汪盛[1] SONG Deyu;LI Yanmei;LI Zhongtao;WANG Sheng(Department of Dermatology,West China Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院皮肤性病科,四川成都610041

出　　处：《中国皮肤性病学杂志》2024年第2期217-219,共3页The Chinese Journal of Dermatovenereology

基　　金：中国博士后科学基金面上资助项目(2020M683318)。

摘　　要：患者女,25岁,躯干色素沉着20年。皮肤科情况:躯干、面颈部、四肢近端弥漫色素沉着斑片及皮肤肥厚。基因检测:FGFR3基因c.1949A>C(K650T)杂合错义突变。诊断:家族性黑棘皮病。给予患者化学剥脱治疗,现在继续随访中。A 25⁃year⁃old female was referred to our clinic for diffuse hyperpigmentation on the trunk for 20 years.Physical examination revealed diffuse hyperpigmentation and papules on the trunk,face,neck,and proximal extremities.Gene analysis revealed the heterozygous c.1949A>C mutation in FGFR3 in the patient and her mother.The diagnosis of Familial Acanthosis Nigricans was established.The patient was treated by chemical peeling and was still under follow⁃up.

关 键 词：家族性黑棘皮病 FGFR3基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]