烧伤样瘢痕：KLHL24相关单纯性大疱性表皮松解症的提示性体征。

Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.

作者信息

Alkhalifah Azzam, Chiaverini Christine, Charlesworth Alexandra, Has Cristina, Lacour Jean-Philippe

机构信息

Department of Dermatology, Nice University Hospital, Nice, France.

Unaizah College of Medecine, Qassim University, Qassim, Saudi Arabia.

出版信息

Pediatr Dermatol. 2018 May;35(3):e193-e195. doi: 10.1111/pde.13443. Epub 2018 Mar 25.

DOI:10.1111/pde.13443

PMID:29574966

Abstract

Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. We describe a case of KLHL24-related epidermolysis bullosa simplex and highlight the burn-like pattern of scars.

摘要

单纯性大疱性表皮松解症是一组具有等位基因和基因座异质性的遗传性疾病，其特征为皮肤脆弱并出现皮肤内水疱。大多数报道病例的病因是KRT5和KRT14发生突变。最近有报道称，编码KLHL24蛋白的KLHL24基因发生突变会导致一种全身性单纯性大疱性表皮松解症亚型，可能是通过增加角蛋白14的降解来实现的。我们描述了一例与KLHL24相关的单纯性大疱性表皮松解症病例，并强调了类似烧伤的瘢痕模式。