Update on ectodermal dysplasias clinical classification

Abstract

Monogenic genetic disorders constitute a very large group of rare conditions, each of which is defined by a characteristic combination of phenotypic features. Their enormous clinical variability and their etiological heterogeneity may result in difficulties for the establishment of a syndromic diagnosis. In this context, classifications were proposed for different nosological groups, including ectodermal dysplasias. Freire-Maia proposed a clinical based classification, but nowadays the need of connecting clinical and molecular data on EDs demands a re-evaluation of the knowledge and the formulation of a new classification approach. The aim of this article is to provide an update of an article published in 2009 in this Journal. In order to check for new articles and information on ectodermal dysplasias, we have consulted the OMIM, PUBMED, and Science Direct online databases.

A novel homozygous mutation in PVRL4 causes ectodermal dysplasia‐syndactyly syndrome 1

“…Ectodermal dysplasia (ED) comprises a large and heterogenous group of hereditary disorders of ectodermal structures (skin, teeth, hair, nails, sweat glands) …”

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

“…There are 3 subtypes of HED including X‐linked (XLHED, OMIM 305100), autosomal dominant (ADHED, OMIM 129490, or 614940), and autosomal recessive HED (ARHED, OMIM 224900, or 614941) . Ectodysplasin A ( EDA ; Gene ID: 1896) is the candidate gene for XLHED .…”

“…614940), and autosomal recessive HED (ARHED, OMIM 224900, or 614941). 4,5 Ectodysplasin A (EDA; Gene ID: 1896) is the candidate gene for XLHED. 4,6 The pathogenic genes of both ADHED and ARHED are Ectodysplasin A receptor (EDAR; Gene ID: 10913) and EDAR-associated death domain (EDARADD; Gene ID: 128178).…”

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients

“…ED is heterogeneous both clinically and genetically. There are 163 well-established clinical entrances in Group A of ED [ 3 ]. Seventy-seven genes have been proven to be the causative genes of 75 EDs [ 3 ].…”