Burnlike scars: A sign suggestive of KLHL KLHL 24‐related epidermolysis bullosa simplex

摘要

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 KRT 5 and KRT 14 underlie the majority of reported cases. Mutations in KLHL 24 , a gene that encodes KLHL 24 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 KLHL 24 ‐related epidermolysis bullosa simplex and highlight the burn‐like pattern of scars.