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

Lula María Nieto-BenitoIrene Molina-LópezMarta Feito-RodríguezVíctor Martínez-GonzálezRicardo Suárez-FernándezMinia Campos-Dominguez
Published in: Pediatric dermatology (2021)
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.
Keyphrases
  • case report
  • systematic review
  • gene expression
  • copy number