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Vol. 104. Issue 6.
Pages 451-470 (July - August 2013)
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Vol. 104. Issue 6.
Pages 451-470 (July - August 2013)
Review
DOI: 10.1016/j.adengl.2013.05.001
Ectodermal Dysplasias: A Clinical and Molecular Review
Displasias ectodérmicas: revisión clínica y molecular
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P. García-Martín, A. Hernández-Martín
Corresponding author
ahernandez_hnj@yahoo.es

Corresponding Author.
, A. Torrelo
Servicio de Dermatología, Hospital Infantil del Niño Jesús, Madrid, Spain
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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.

Keywords:
Genodermatosis
Ectodermal dysplasia
Nuclear Factor kappa B
Ectodysplasin
Protein p63
Resumen

Las displasias ectodérmicas son un amplio grupo de trastornos hereditarios que se caracterizan por la alteración de estructuras derivadas del ectodermo. Aunque algunos de estos síndromes poseen características específicas, determinados rasgos clínicos son comunes en muchos de ellos. De modo general, se diferencian 2 grupos de trastornos: uno caracterizado por la aplasia o hipoplasia de los derivados ectodérmicos, que fracasan en su desarrollo y diferenciación por la ausencia de señales recíprocas específicas entre ectodermo y mesénquima, y otro en el que la característica más llamativa es la queratodermia palmoplantar, que se presenta en asociación con otras manifestaciones cuando se afectan otros epitelios altamente especializados. En las últimas décadas se ha logrado identificar el gen responsable en al menos 30 entidades, permitiéndonos entender los mecanismos patogénicos y su correlación con la clínica.

Palabras clave:
Genodermatosis
Displasia ectodérmica
Factor Nuclear kappa B
Ectodisplasina
Proteína p63

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