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:

scopusscopus

Tipo de documento:

Article

Estado:

Acceso restringido

Áreas de conocimiento:

  • Genética
  • Genética

Áreas temáticas:

  • Fisiología humana
  • Enfermedades
  • Ginecología, obstetricia, pediatría, geriatría