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

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

Research output: Contribution to journalJournal articlepeer-review

6 Scopus citations

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.

Original languageEnglish
Pages (from-to)e193-e195
JournalPediatric Dermatology
Volume35
Issue number3
DOIs
StatePublished - 1 May 2018

Keywords

  • epidermolysis bullosa simplex
  • genetic diseases/mechanisms
  • genodermatoses

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