Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia

Pediatr Dermatol. 2021 Mar;38(2):530-532. doi: 10.1111/pde.14512. Epub 2021 Jan 24.

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.

Keywords: Basan syndrome; adermatoglyphia; ectodermal dysplasia; genodermatosis.

Publication types

  • Case Reports

MeSH terms

  • DNA Helicases / genetics
  • Ectodermal Dysplasia* / diagnosis
  • Ectodermal Dysplasia* / genetics
  • Humans
  • Mutation
  • Nails, Malformed* / diagnosis
  • Nails, Malformed* / genetics
  • Skin Diseases, Genetic*

Substances

  • SMARCAD1 protein, human
  • DNA Helicases

Supplementary concepts

  • Basan syndrome