KRT17基因c.263新生突变导致Ⅱ型先天性厚甲症  

c.263 mutation of KRT17 gene in pachyonychia congenital type 2: a case report

作　　者：管志伟[1] 史伟杰 廉佳[1] GUAN Zhi-wei;SHI Wei-jie;LIAN Jia(Department of Dermatology,Tianjin Children's Hospital,Tianjin 300400,China)

机构地区：[1]天津市儿童医院/天津大学儿童医院皮肤科,天津300400 [2]天津市西青医院皮肤科,天津300380

出　　处：《临床皮肤科杂志》2021年第9期552-554,共3页Journal of Clinical Dermatology

摘　　要：报告1例Ⅱ型先天性厚甲症。患儿女,3岁。指、趾甲增厚2年。皮肤科检查:指、趾甲由近端至远端逐渐呈楔形增厚并翘起,污褐色,不透明,表面粗糙,甲半月存在。基因检测:KRT17基因第1号外显子上存在错义突变(c.263T>C)导致第88位氨基酸由Met变为Thr,先证者变异为新发突变。最终诊断:Ⅱ型先天性厚甲症。A case of pachyonychia congenita type 2 is reported. A 3-year-old female presented with thickening of fingernails and toenails for 2 years. Dermatological examination showed thickened fingernails and toenails that were in a wedgeshaped and were raised from the proximal end to the distal end. The nails were brown and opaque with a rough surface.The half moon-shaped lunula of the nail was preserved. Genetic testing showed a missense mutation(c.263 t > C) in exon 1 of KRT17 gene, which caused amino acid at position 88 to change from Met to Thr. The proband was a new mutation. The final diagnosis was pachyonychia congenital type 2.

关 键 词：厚甲症 先天性 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]