中国麻风皮肤病杂志 ›› 2022, Vol. 38 ›› Issue (9): 604-606.doi: 10.12144/zgmfskin202209604

• 论著 • 上一篇    下一篇

伴移行性环形红斑的单纯性大疱性表皮松解症一家系报道及基因检测

杨蓓蓓1,武卫民2,肖华1   

  1. 1福建医科大学附属第一医院，福建福州，350005；
    2郴州市第一人民医院皮肤科，湖南郴州，423000
  • 出版日期:2022-09-15 发布日期:2022-07-13

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema in a Chinese family

YANG Beibei1, WU Weimin2, XIAO Hua1   

  1. 1 The First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China;
    2 The First People's Hospital of Chenzou, Chenzhou 423000, China
  • Online:2022-09-15 Published:2022-07-13

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摘要： 目的：单纯性大疱性表皮松解症伴有移行性环状红斑（EBS-Migr）是EBS的一种罕见亚型，是一种常染色体显性遗传病，本文报道一家系，并进行基因检测。方法：收集临床资料，提取患儿及其父母外周血DNA，对患儿及其父母进行全基因组外显子测序，经生物学分析，获得致病变异；再采用Sanger测序法进行验证。结果：患儿及其父亲KRT5外显子9存在杂合突变（移码缺失c.1653_1654delCT），其母亲未发现该突变。结论：该患儿诊断为伴移行性环状红斑的单纯性大疱性表皮松解症，致病机制为KRT5外显子9发生杂合突变（移码缺失c.1653_1654delCT），既往未见报道。

关键词: 单纯性大疱性表皮松解症, 移行性环状红斑, KRT5

Abstract: Objective: Epidermolysis bullosa simplex migratory circinate erythema (EBS-Migr) is an uncommon subtype of EBS, is an autosomal-dominant inherited blistering skin disease. We report a family of EBS-Migr and detect the related gene mutations. Methods: Clinical data were collected and peripheral blood DNA of the family was extracted. The Whole-exome sequencing was performed and sequencing results were analyzed by bioinformatics to get pathogenic candidate mutations. Then the Sanger sequencing method was used for verification. Results: The mutation in exon 9 (frameshift deletion c.1653_1654delCT) of keratin 5 (KRT5) was detected in the proband and her father. Conclusion: KRT5 mutation (frameshift deletion c.1653_1654delCT) may be the cause of EBS-Migr in this family, and the mutation has not been reported.

Key words: epidermolysis bullosa simplex, migratory circinate erythema, keratin 5