Family with autosomal dominant hidrotic ectodermal dysplasia: A previously unrecognised syndrome?

Abstract

We describe a three‐generation family with an autosomal dominant hidrotic ectodermal dysplasia consisting mainly of tricho‐ and onychodysplasia. One of the patients had supraventricular tachycardia, another had palpitations, and two others had sinus brachycardia. We consider that the clinical manifestations in this family differ significantly from those of the Clouston syndrome (their previous diagnosis) and places them in Group A, subgroup 1–3 (tricho‐onychic) of the ectodermal dysplasia classification proposed by Freire‐Maia and Pinheiro [1988, “Ectodermal Dysplasias”]. © 1996 Wiley‐Liss, Inc.

Family with “pure” hair-nail ectodermal dysplasia

“…The possibility that our patients are affected by the mild phenotype of other previously described disorders [Clouston, 1929;Beare, 1952;Christianson and Fourie, 1996] may easily be ruled out on clinical grounds. In conclusion, our patients do not seem to fulfill the criteria of any previously reported disorder and could therefore represent a new type of pure ED involving hair and nails.…”

Genetic diagnosis for X‐linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation

“…Congenital ectodermal dysplasia (CED) manifests as dysfunction of more systems/organs originating from the ectoderm such as skin and its associated structures, teeth as well as eyes, and occasionally affects the central nervous system. According to the condition of patients’ sweat gland, CED includes hypohidrotic or anhidrotic ectodermal dysplasia (HED/AED, OMIM # 305100) and hidrotic ectodermal dysplasia (HED, OMIM # 601375), showing X‐linked recessive inheritance, autosomal dominant inheritance and autosomal recessive inheritance. In clinical practice, X‐linked hypohidrotic ectodermal dysplasia (XLHED) is relatively common, while autosomal dominant HED and autosomal recessive HED are relatively rare.…”

Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies

“…This rare disease has a founder effect within the French-Canadian population and is characterized by palmoplantar hyperkeratosis (PPK), nail dystrophies and partial to complete alopecia Zhang et al, 2003). In some patients, other symptoms -such as ocular and craniofacial abnormalities, hearing loss, and abnormal sweating and cardiac findings -have been reported (Christianson and Fourie, 1996;Fraser and Der Kaloustian, 2001;Lamartine et al, 2000). Interestingly, one patient harboring a V37E Cx30 mutation was diagnosed with keratitis-ichthyosis-deafness (KID) syndrome, which is commonly associated with Cx26 mutations.…”