Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.
Pediatr Dermatol
; 35(3): e193-e195, 2018 May.
Article
em En
| MEDLINE
| ID: mdl-29574966
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Repressoras
/
Epidermólise Bolhosa Simples
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Child, preschool
/
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
França