Ectodermal Dysplasias

Abstract

Ectodermal dysplasias, a large group of heterogeneous heritable conditions, are characterized by congenital defects in two or more ectodermal structures, involving at least one in the hair (trichodysplasia), teeth (dental defects), nails (onychodysplasia) or sweat glands (hypohidrosis). Of the approximately 220 different ectodermal dysplasias, about 80 have been identified at the molecular level with the identification of the causative genes. Recent evidence implicates genetic defects in different key pathways orchestrating ectodermal organogenesis.