Family with “pure” hair-nail ectodermal dysplasia

Abstract

"Pure" ectodermal dysplasias are developmental disorders affecting only tissues of ectodermal origin. Two different pure ectodermal dysplasias involving only hair and nails have been described to date. Here we describe congenital nail dystrophy and hypotrichosis associated with folliculitis decalvans in a family suggesting autosomal-dominant transmission. This report documents peculiar clinical and ultrastructural hair findings that fit poorly into previously described conditions. Thus the reported patients could represent a new type of pure ectodermal dysplasia.

The genetics of hair shaft disorders

“…ED is a heterogenous group of hereditary diseases caused by developmental anomalies during embryogenesis of one or more epidermal appendages. 170,171 PT has been reported with different EDs. 153,154,[172][173][174][175][176][177][178][179][180][181][182][183][184] (Table III).…”

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

“…Inheritance mode of PHNED is both autosomal recessive and dominant [1, 2]. No gene has been reported for autosomal dominant PHNED.…”

Current Genetics in Hair Diseases

“…Although precise mechanisms to cause moniliform hair remain elusive, mutations in these hair keratin genes are predicted to result in disruption of the KIF formation, leading to an abnormal hair shaft keratinization. Pure hair and nail ectodermal dysplasia (PHNED; MIM 602032) is characterized by absent or sparse hair, as well as nail dystrophy [16]. Hairs of affected individuals with PHNED are short…”