Ectodermal Dysplasias: A Clinical and Molecular Review

Abstract The ectodermal dysplasias are a large group of hereditary disorders characterized by alterations of structures of ectodermal origin. Although some syndromes can have specific features, many of them share common clinical characteristics. Two main groups of ectodermal dysplasias can be distin...

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Bibliographic Details
Published in:Actas dermo-sifiliográficas (English ed.) 2013-07, Vol.104 (6), p.451-470
Main Authors: García-Martín, P, Hernández-Martín, A, Torrelo, A
Format: Article
Language:English
Subjects:
Dermatology
Displasia ectodérmica
Ectodermal dysplasia
Ectodermal Dysplasia - classification
Ectodermal Dysplasia - diagnosis
Ectodermal Dysplasia - genetics
Ectodisplasina
Ectodysplasin
Factor Nuclear kappa B
Genodermatosis
Humans
Internal Medicine
Molecular Diagnostic Techniques
Nuclear Factor kappa B
Phenotype
Protein p63
Proteína p63
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Summary:Abstract The ectodermal dysplasias are a large group of hereditary disorders characterized by alterations of structures of ectodermal origin. Although some syndromes can have specific features, many of them share common clinical characteristics. Two main groups of ectodermal dysplasias can be distinguished. One group is characterized by aplasia or hypoplasia of ectodermal tissues, which fail to develop and differentiate because of a lack of reciprocal signaling between ectoderm and mesoderm, the other has palmoplantar keratoderma as its most striking feature, with additional manifestations when other highly specialized epithelia are also involved. In recent decades, the genes responsible for at least 30 different types of ectodermal dysplasia have been identified, throwing light on the pathogenic mechanisms involved and their correlation with clinical findings.
ISSN:1578-2190
2173-5778
1578-2190
DOI:10.1016/j.adengl.2013.05.001