Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia.

单纯大疱性表皮松解症与肌张力素基因突变 ： 沙特阿拉伯首例报告病例。

• 发表时间: 2023 Aug
• 来源期刊: Cureus
• DOI: 10.7759/cureus.43206
• PMID: 37692655
• 文章类型: Case Reports
• 作者列表: Al Towijry M,Alanazi AMM,Eldesoky F,Alharthi YH,Albalawi IAS

关键词: child; epidermolysis bullosa simplex; gene mutation; homozygous; skin disease

Abstract

We report a case of a 3-year-old Saudi female patient as the first case reported in Saudi Arabia who is homozygous for dystonin c.3370C>T, p.(Gln1124*). At the age of 3 months, the girl started to develop numerous vesicles and bullae involving the dorsum of the feet that were not on a pressure site, with remission and aggravation, but she had no mucosal lesions or nail affection. The patient was diagnosed with epidermolysis bullosa simplex.

摘要

我们报告了一例3岁的沙特女性患者，这是沙特阿拉伯报道的第一例，该患者为神经张力素纯合子c.3370C>T，p.（Gln1124*）。在3个月大的时候，女孩开始发展出许多囊泡和大疱，涉及不在压力部位的脚背，缓解和加重，但她没有粘膜损伤或指甲损伤。患者被诊断为单纯大疱性表皮松解症。