Ectodermal dysplasias: a new clinical-genetic classification
Identifieur interne : 000753 ( Ncbi/Curation ); précédent : 000752; suivant : 000754Ectodermal dysplasias: a new clinical-genetic classification
Auteurs : M. Priolo ; C. LaganaSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2001.
Abstract
The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some conditions, with mental retardation.
The anomalies affecting the epidermis and epidermal appendages are extremely variable and clinical overlap is present among the majority of EDs. Most EDs are defined by particular clinical signs (for example, eyelid adhesion in AEC syndrome, ectrodactyly in EEC). To date, few causative genes have been identified for these diseases.
We recently reviewed genes known to be responsible for EDs in light of their molecular and biological function and proposed a new approach to EDs, integrating both molecular-genetic data and corresponding clinical findings. Based on our previous report, we now propose a clinical-genetic classification of EDs, expand it to other entities in which no causative genes have been identified based on the phenotype, and speculate on possible candidate genes suggested by associated "non-ectodermal" features.
Url:
DOI: 10.1136/jmg.38.9.579
PubMed: 11546825
PubMed Central: 1734928
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Ectodermal dysplasias: a new clinical-genetic classification</title><author><name sortKey="Priolo, M" sort="Priolo, M" uniqKey="Priolo M" first="M." last="Priolo">M. Priolo</name></author><author><name sortKey="Lagana, C" sort="Lagana, C" uniqKey="Lagana C" first="C." last="Lagana">C. Lagana</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">11546825</idno><idno type="pmc">1734928</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734928</idno><idno type="RBID">PMC:1734928</idno><idno type="doi">10.1136/jmg.38.9.579</idno><date when="2001">2001</date><idno type="wicri:Area/Pmc/Corpus">004C53</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">004C53</idno><idno type="wicri:Area/Pmc/Curation">004C52</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">004C52</idno><idno type="wicri:Area/Pmc/Checkpoint">004033</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">004033</idno><idno type="wicri:Area/Ncbi/Merge">000753</idno><idno type="wicri:Area/Ncbi/Curation">000753</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Ectodermal dysplasias: a new clinical-genetic classification</title><author><name sortKey="Priolo, M" sort="Priolo, M" uniqKey="Priolo M" first="M." last="Priolo">M. Priolo</name></author><author><name sortKey="Lagana, C" sort="Lagana, C" uniqKey="Lagana C" first="C." last="Lagana">C. Lagana</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2001">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848.<sup> </sup>In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some conditions, with mental retardation.
The anomalies affecting the epidermis and epidermal appendages are extremely variable and clinical overlap is present among the majority of EDs. Most EDs are defined by particular clinical signs (for example, eyelid adhesion in AEC syndrome, ectrodactyly in EEC). To date, few causative genes have been identified for these diseases.
We recently reviewed genes known to be responsible for EDs in light of their molecular and biological function and proposed a new approach to EDs, integrating both molecular-genetic data and corresponding clinical findings. Based on our previous report, we now propose a clinical-genetic classification of EDs, expand it to other entities in which no causative genes have been identified based on the phenotype, and speculate on possible candidate genes suggested by associated "non-ectodermal" features.
<bold>Keywords:</bold> ectodermal dysplasia; clinical-functional correlation; epithelial-mesenchymal interaction; ectodermal structural proteins </p></div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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