自发突变致先天性厚甲症-K6a  

Pachyonychia congenita caused by sporadic mutation in KRT6A gene: a case report

作　　者：王莹[1] 陈立新[1] 廉佳[1] WANG Ying;CHEN Li-xin;LIAN Jia(Department of Dermatology,Tianjin Children's Hospital,Tianjin 300074,China)

机构地区：[1]天津市儿童医院皮肤科,天津300074

出　　处：《临床皮肤科杂志》2023年第1期11-14,共4页Journal of Clinical Dermatology

基　　金：天津市卫生健康委员会科技项目(RC20125)资助。

摘　　要：患儿女,4个月。因双手指甲增厚4个月就诊。患儿出生后3 d即开始出现双手指甲增厚、变黄;4个月龄时,双手足20甲均增厚,呈爪状;随访至8个月龄时,双手指甲下充满硬性角质样物质,呈楔形增厚,右手食指、左足拇趾掌侧出现角化;基因检测:KRT6A基因第7外显子存在一个杂合突变c.1390A>C(p.T464P),患儿父母及其他家属均无相关症状,且其父母基因检测回报未发现该突变位点,结合本患儿临床表现和基因结果,诊断先天性厚甲症(PC-K6a)。The patient was 4-month-old baby girl present with thickened nails for 4 months. The age of onset was 3 days after birth. Physical examination showed thickening of all fingernails and toenails. The follow up examination when the patient was 8 months old showed hard, thickened keratin debris underneath all her nails. Palmoplantar keratoderma was noted on her right index finger and left big toe. Genetic testing revealed a heterozygous mutation in exon 7 of KRT6A gene c.1390A>C(p.T464P). The parents and other family members were free of symptoms and showed no genetic abnormalities. Taken together,a diagnosis of pachyonychia congenita(PC) caused by sporadic mutation in KRT6A gene was made.

关 键 词：厚甲症 先天性 基因检测 KRT6A 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]