Burnlike scars: A sign suggestive of KLHL24‐related epidermolysis bullosa simplex. Issue 3 (25th March 2018)

• Record Type: Journal Article
• Authors: Alkhalifah, Azzam; Chiaverini, Christine; Charlesworth, Alexandra; Has, Cristina; Lacour, Jean‐Philippe
• Is Part Of: Pediatric dermatology. Volume 35:Issue 3(2018)
• Page Start: e193
• Page End: e195
• Publication Date: 2018-03-25
• Subjects: epidermolysis bullosa simplex -- genetic diseases/mechanisms -- genodermatoses; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.13443
• Languages: English
• ISSNs: 0736-8046

Abstract

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.