GJB2基因p.S17F变异引起Olmsted综合征样表现的角膜炎-鱼鳞病-耳聋综合征1例  

Keratitis-Ichthyosis-Deafness Syndrome with Olmsted Syndrome-Like Characteristics Caused by GJB2 Gene p.S17F Mutation:A Case Report

作　　者：罗磊 宋德宇 李仲桃 汪盛[2] LUO Lei;SONG Deyu;LI Zhongtao;WANG Sheng(West China School of Medicine,Sichuan University,Chengdu 610041,China;Department of Dermatology,West China Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西临床医学院,四川成都610041 [2]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5期554-557,共4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：患儿女,1岁5月龄,肢端及腔口周围角化斑块1年余。皮肤科情况:口周、肛周红色角化斑块、表面有放射状裂隙,掌跖皮肤颗粒状角化,伴趾端残毁。出生后听力检查提示先天性感音神经性耳聋,2岁5月龄时发现角膜穿孔。基因检测:GJB2基因c.50C>T(p.S17F)杂合错义突变。诊断:角膜炎-鱼鳞病-耳聋综合征。p.S17F基因突变可能与Olmsted综合征样特征密切相关,在往后诊断中应注意鉴别。A 1-year-5-month-old infant presented with hyperkeratotic plaques around the limbs and orifices for more than one year.Dermatological examination showed erythematous keratotic plaques with radiating fissures around the mouth and anus,granular hyperkeratosis on the palms and soles,and destruction of the fingertips on the toes.Hearing tests after birth showed congenital sensorineural hearing loss,and corneal perforation was found at the age of 2 years and 5 months.Genetic testing revealed a heterozygous missense mutation c.50C>T(p.S17F) in the GJB2 gene.The diagnosis of Keratitis-ichthyosis-deafness syndrome was made.The p.S17F mutation may be closely associated with Olmsted syndrome-like characteristics,and it is important to pay attention to differential diagnosis in the future.

关 键 词：角膜炎-鱼鳞病-耳聋综合征 OLMSTED综合征 GJB2基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]