Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia
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.
Año de publicación:
2021
Keywords:
- Genodermatosis
- ectodermal dysplasia
- Basan syndrome
- adermatoglyphia
Fuente:

Tipo de documento:
Article
Estado:
Acceso restringido
Áreas de conocimiento:
- Genética
- Genética
Áreas temáticas:
- Fisiología humana
- Enfermedades
- Ginecología, obstetricia, pediatría, geriatría