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Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.
Alkhalifah, Azzam; Chiaverini, Christine; Charlesworth, Alexandra; Has, Cristina; Lacour, Jean-Philippe.
Afiliação
  • Alkhalifah A; Department of Dermatology, Nice University Hospital, Nice, France.
  • Chiaverini C; Unaizah College of Medecine, Qassim University, Qassim, Saudi Arabia.
  • Charlesworth A; Department of Dermatology, Nice University Hospital, Nice, France.
  • Has C; French Reference Center for Inherited Epidermolysis Bullosa CREBHN, Nice University Hospital, Nice, France.
  • Lacour JP; French Reference Center for Inherited Epidermolysis Bullosa CREBHN, Nice University Hospital, Nice, France.
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.
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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

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