Ectodermal dysplasias: A clinical and molecular review

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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. © 2011 Elsevier España, S.L. and AEDV. All rights reserved.

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García-Martín, P., Hernández-Martín, A., & Torrelo, A. (2013). Ectodermal dysplasias: A clinical and molecular review. Actas Dermo-Sifiliograficas. Elsevier Doyma. https://doi.org/10.1016/j.adengl.2013.05.001

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