KRT9基因突变所致表皮松解性掌跖角化病1例  

A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation

作　　者：徐文聪 朱磊[1] 苏杭 张娇 陈文静 陈永锋[1] XU Wencong;ZHU Lei;SU Hang;ZHANG Jiao;CHEN Wenjing;CHEN Yongfeng(Guangdong Clinical College of Dermatology,Anhui Medical University;Dermatology Hospital,Southern Medical University,Guangzhou 510091,China)

机构地区：[1]安徽医科大学广东皮肤病临床学院 [2]南方医科大学皮肤病医院,广东广州510091

出　　处：《皮肤性病诊疗学杂志》2022年第1期34-36,共3页Journal of Diagnosis and Therapy on Dermato-venereology

摘　　要：报告KRT9基因突变所致表皮松解性掌跖角化病1例。患者男,中国籍,32岁,手足角化性斑块30余年。皮肤科检查:双侧掌跖面可见对称性弥漫性角化斑块,皮肤粗糙增厚,呈灰黄色。皮损组织病理:表皮明显角化过度,颗粒层棘层增厚,皮突延长,颗粒细胞变性,考虑掌跖角化病。基因全外显子组测序结果:KRT9基因外显子检测出c.487C>T(p.Arg163Trp)点突变。诊断:表皮松解性掌跖角化病。A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation is reported.A 32-year-old Chinese man presented with a 30-year history of palmoplantar hyperkeratotic plaques.Dermatological examination showed the hyperkeratotic plaques on bilateral palms and soles,and rough thickened skin in gray-yellow color.The histopathology revealed markedly epidermolytic hyperkeratosis,acanthosis and vacuolar changes of the stratum granulosum.Whole-exome sequencing showed a exon mutation of KRT9 gene[c.487C>T(p.Arg163Trp)].The patient was diagnosed as epidermolytic palmoplantar keratosis.

关 键 词：表皮松解性 掌跖角化病 KRT9基因 

分 类 号：R75[医药卫生—皮肤病学与性病学]