Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
Congenital malformations
Congenital malformations of skin
H00651 Hypohidrotic ectodermal dysplasia
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H00651 Hypohidrotic ectodermal dysplasia
