Burnlike scars: A sign suggestive of KLHL 24‐related epidermolysis bullosa simplex
A Alkhalifah, C Chiaverini, A Charlesworth… - Pediatric …, 2018 - Wiley Online Library
A Alkhalifah, C Chiaverini, A Charlesworth, C Has, JP Lacour
Pediatric Dermatology, 2018•Wiley Online LibraryEpidermolysis 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 …
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 …
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.
Wiley Online Library