SERPINB7基因纯合突变的长岛型掌跖角化症一例  

A case of nagashima-type palmoplantar keratosis with homozygous mutation in SERPINB7 gene

作　　者：郑晓旭 李敏[1] 毛秋雨 刘倩楠 钱齐宏[1] ZHENG Xiao-xu;LI Min;MAO Qiu-yu(Department of Dermatology,the First Affiliated Hospital of Soochow University,Suzhou 215006,China)

机构地区：[1]苏州大学附属第一医院皮肤科,215006

出　　处：《实用皮肤病学杂志》2022年第1期63-64,共2页Journal of Practical Dermatology

摘　　要：15岁男性患者,双手足出生即出现弥漫性红斑伴角化,家族中无类似病史,父母非近亲结婚。全外显子测序:SERPINB7基因c.522-523insT(p.Val175Cysfs^(*)46)纯合突变,先证者父母为杂合突变。诊断:长岛型掌跖角化症。A 15-year-old boy has been presented with reddish palmoplantar hyperkeratosis since birth.There was no family history of palmoplantar keratosis,and the patient’s parents were unrelated.Whole exome sequencing revealed that SERPINB7 gene c.522-523insT(p.Val175Cysfs^(*)46) homozygous mutation was detected in this case.The genes of the proband’s parents were heterozygous for the mutations.This case was diagnosed as nagashima-type palmoplantar keratosis.

关 键 词：掌跖角化症 长岛型 基因 SERPINB7 纯合突变 

分 类 号：R758.53[医药卫生—皮肤病学与性病学]