Kindler型大疱性表皮松解症合并假性阿洪病1例  

Kindler Epidermolysis Bullosa with Pseudoainhum:A Case Report

作　　者：宋德宇 耿佳 李仲桃 刘俊涵 汪盛[1] SONG Deyu;GENG Jia;LI Zhongtao;LIU Junhan;WANG Sheng(Department of Dermatology,West China Hospital,Sichuan University,Chengdu 610041,China;Institute of Rare Diseases,West China Hospital,Sichuan University,Chengdu 610041,China;West China Medical School,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 [2]四川大学华西医院罕见病研究院,四川成都610041 [3]四川大学华西临床医学院,四川成都610041

出　　处：《中国皮肤性病学杂志》2022年第7期819-823,共5页The Chinese Journal of Dermatovenereology

基　　金：四川省科技厅重点研发项目(2020YFS0197);四川省科技厅应用基础研发项目(2020YJ0059);四川省卫生健康委员会普及应用项目(19PJ103;20PJ065);中国博士后科学基金面上资助(2020M683318);四川大学华西医院专职博士后研发基金(2020HXBH029)。

摘　　要：患者女,26岁,出生后四肢皮肤反复出现水疱,后逐渐减轻,2岁后出现光敏感、皮肤萎缩、色素异常,10岁后逐渐出现掌跖角化过度及双手小指假性阿洪现象。基因检测:FERMT1基因检出一新发现纯合变异:c.1861-1G>A,导致氨基酸发生剪接突变,患者父母均为该变异杂合携带者。诊断:Kindler型大疱性表皮松解症合并假性阿洪病。A 26-year-old female presented with recurrent blister on extremities since birth and eased gradually.Progressive photosensitivity,cutaneous atrophy and poikiloderma were noted after 2 years old.Palmoplantar hyperkeratosis and pseudoainhum of the little fingers appeared from the age of 10.Genetic examination revealed a novel homozygous splice-site mutation c.1861-1G>A of FERMT1 gene in the patient.The parents exhibited heterogeneous identical mutations.The diagnosis of Kindler epidermolysis bullosa with pseudoainhum was made.

关 键 词：Kindler型大疱性表皮松解症 假性阿洪病 FERMT1基因 剪切变异 大疱性表皮松解症 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]