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Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia.
Nieto-Benito, Lula María; Molina-López, Irene; Feito-Rodríguez, Marta; Martínez-González, Víctor; Suárez-Fernández, Ricardo; Campos-Dominguez, Minia.
Afiliação
  • Nieto-Benito LM; Department of Dermatology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
  • Molina-López I; Department of Dermatology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
  • Feito-Rodríguez M; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
  • Martínez-González V; INGEMM (Instituto de Genética Médica y Molecular), Hospital Universitario La Paz, Madrid, Spain.
  • Suárez-Fernández R; Department of Dermatology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
  • Campos-Dominguez M; Department of Dermatology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Pediatr Dermatol ; 38(2): 530-532, 2021 Mar.
Article em En | MEDLINE | ID: mdl-33486784
ABSTRACT
Basan syndrome is a rare autosomal dominant genodermatosis, characterized by rapidly healing congenital acral bullae, congenital milia and adermatoglyphia (lack of finger and toeprints). This type of ectodermal dysplasia has been infrequently reported in the literature. A pathogenic mutation in the SMARCAD1 gene has been demonstrated to cause this rare disorder.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Displasia Ectodérmica / Unhas Malformadas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias Genéticas / Displasia Ectodérmica / Unhas Malformadas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article