Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia.
Pediatr Dermatol
; 38(2): 530-532, 2021 Mar.
Article
en En
| MEDLINE
| ID: mdl-33486784
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Cutáneas Genéticas
/
Displasia Ectodérmica
/
Uñas Malformadas
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2021
Tipo del documento:
Article
País de afiliación:
España
Pais de publicación:
Estados Unidos