Ectodermal dysplasias: a clinical and molecular review

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....

Full description

Saved in:
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:eng ; spa
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page 470
container_issue 6
container_start_page 451
container_title Actas dermo-sifiliográficas (English ed.)
container_volume 104
creator García-Martín, P
Hernández-Martín, A
Torrelo, A
description 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.
doi_str_mv 10.1016/j.ad.2012.07.012
format article
fullrecord <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_miscellaneous_1427002954</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1427002954</sourcerecordid><originalsourceid>FETCH-LOGICAL-p118t-434ab097c8fd9b816cee7a70ff8635454ff6cc69a495de3e7c072928ce47a5a53</originalsourceid><addsrcrecordid>eNotzDtLA0EUQOFBEAwxveWWNrvOnffYSYgaCNhoHW5m7sCG2Yc7u4r_3oBWB77iMHYHvAEO5uHcYGwEB9Fw21xyxVagrasFeH7DNqWcOb8wSC1hxcwuzEOkqcNcxZ8yZiwtlscKq5Dbvg0Xxj5W3ZApLBmnaqKvlr5v2XXCXGjz3zX7eN69b1_rw9vLfvt0qEcAN9dKKjxxb4NL0Z8cmEBk0fKUnJFaaZWSCcF4VF5HkmQDt8ILF0hZ1Kjlmt3_fcdp-FyozMeuLYFyxp6GpRxBCcu58FrJXw9oSNQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1427002954</pqid></control><display><type>article</type><title>Ectodermal dysplasias: a clinical and molecular review</title><source>ScienceDirect Freedom Collection</source><source>ScienceDirect (Online service)</source><creator>García-Martín, P ; Hernández-Martín, A ; Torrelo, A</creator><creatorcontrib>García-Martín, P ; Hernández-Martín, A ; Torrelo, A</creatorcontrib><description>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.</description><identifier>EISSN: 1578-2190</identifier><identifier>DOI: 10.1016/j.ad.2012.07.012</identifier><language>eng ; spa</language><ispartof>Actas dermo-sifiliográficas (English ed.), 2013-07, Vol.104 (6), p.451-470</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids></links><search><creatorcontrib>García-Martín, P</creatorcontrib><creatorcontrib>Hernández-Martín, A</creatorcontrib><creatorcontrib>Torrelo, A</creatorcontrib><title>Ectodermal dysplasias: a clinical and molecular review</title><title>Actas dermo-sifiliográficas (English ed.)</title><description>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.</description><issn>1578-2190</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><recordid>eNotzDtLA0EUQOFBEAwxveWWNrvOnffYSYgaCNhoHW5m7sCG2Yc7u4r_3oBWB77iMHYHvAEO5uHcYGwEB9Fw21xyxVagrasFeH7DNqWcOb8wSC1hxcwuzEOkqcNcxZ8yZiwtlscKq5Dbvg0Xxj5W3ZApLBmnaqKvlr5v2XXCXGjz3zX7eN69b1_rw9vLfvt0qEcAN9dKKjxxb4NL0Z8cmEBk0fKUnJFaaZWSCcF4VF5HkmQDt8ILF0hZ1Kjlmt3_fcdp-FyozMeuLYFyxp6GpRxBCcu58FrJXw9oSNQ</recordid><startdate>20130701</startdate><enddate>20130701</enddate><creator>García-Martín, P</creator><creator>Hernández-Martín, A</creator><creator>Torrelo, A</creator><scope>7X8</scope></search><sort><creationdate>20130701</creationdate><title>Ectodermal dysplasias: a clinical and molecular review</title><author>García-Martín, P ; Hernández-Martín, A ; Torrelo, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p118t-434ab097c8fd9b816cee7a70ff8635454ff6cc69a495de3e7c072928ce47a5a53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng ; spa</language><creationdate>2013</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>García-Martín, P</creatorcontrib><creatorcontrib>Hernández-Martín, A</creatorcontrib><creatorcontrib>Torrelo, A</creatorcontrib><collection>MEDLINE - Academic</collection><jtitle>Actas dermo-sifiliográficas (English ed.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>García-Martín, P</au><au>Hernández-Martín, A</au><au>Torrelo, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ectodermal dysplasias: a clinical and molecular review</atitle><jtitle>Actas dermo-sifiliográficas (English ed.)</jtitle><date>2013-07-01</date><risdate>2013</risdate><volume>104</volume><issue>6</issue><spage>451</spage><epage>470</epage><pages>451-470</pages><eissn>1578-2190</eissn><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.</abstract><doi>10.1016/j.ad.2012.07.012</doi><tpages>20</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier EISSN: 1578-2190
ispartof Actas dermo-sifiliográficas (English ed.), 2013-07, Vol.104 (6), p.451-470
issn 1578-2190
language eng ; spa
recordid cdi_proquest_miscellaneous_1427002954
source ScienceDirect Freedom Collection; ScienceDirect (Online service)
title Ectodermal dysplasias: a clinical and molecular review
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-01T01%3A28%3A09IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Ectodermal%20dysplasias:%20a%20clinical%20and%20molecular%20review&rft.jtitle=Actas%20dermo-sifiliogr%C3%A1ficas%20(English%20ed.)&rft.au=Garc%C3%ADa-Mart%C3%ADn,%20P&rft.date=2013-07-01&rft.volume=104&rft.issue=6&rft.spage=451&rft.epage=470&rft.pages=451-470&rft.eissn=1578-2190&rft_id=info:doi/10.1016/j.ad.2012.07.012&rft_dat=%3Cproquest%3E1427002954%3C/proquest%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-p118t-434ab097c8fd9b816cee7a70ff8635454ff6cc69a495de3e7c072928ce47a5a53%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=1427002954&rft_id=info:pmid/&rfr_iscdi=true