Ectodermal dysplasias: a new clinical-genetic classification
Identifieur interne : 005274 ( Istex/Corpus ); précédent : 005273; suivant : 005275Ectodermal dysplasias: a new clinical-genetic classification
Auteurs : Manuela Priolo ; Carmelo LaganàSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2001-09-01.
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.
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DOI: 10.1136/jmg.38.9.579
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Ectodermal dysplasias: a new clinical-genetic classification</title><author><name sortKey="Priolo, Manuela" sort="Priolo, Manuela" uniqKey="Priolo M" first="Manuela" last="Priolo">Manuela Priolo</name><affiliation><mods:affiliation>Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</mods:affiliation></affiliation></author><author><name sortKey="Lagana, Carmelo" sort="Lagana, Carmelo" uniqKey="Lagana C" first="Carmelo" last="Laganà">Carmelo Laganà</name><affiliation><mods:affiliation>Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:B03B46B0A715D9949A52EC8E828CCAFB1716F9D5</idno><date when="2001" year="2001">2001</date><idno type="doi">10.1136/jmg.38.9.579</idno><idno type="url">https://api.istex.fr/document/B03B46B0A715D9949A52EC8E828CCAFB1716F9D5/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">005274</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005274</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Ectodermal dysplasias: a new clinical-genetic classification</title><author><name sortKey="Priolo, Manuela" sort="Priolo, Manuela" uniqKey="Priolo M" first="Manuela" last="Priolo">Manuela Priolo</name><affiliation><mods:affiliation>Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</mods:affiliation></affiliation></author><author><name sortKey="Lagana, Carmelo" sort="Lagana, Carmelo" uniqKey="Lagana C" first="Carmelo" last="Laganà">Carmelo Laganà</name><affiliation><mods:affiliation>Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2001-09-01">2001-09-01</date><biblScope unit="volume">38</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="579">579</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">B03B46B0A715D9949A52EC8E828CCAFB1716F9D5</idno><idno type="DOI">10.1136/jmg.38.9.579</idno><idno type="href">jmedgenet-38-579.pdf</idno><idno type="PMID">11546825</idno><idno type="local">jmedgenet;38/9/579</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><istex><corpusName>bmj</corpusName><keywords><teeft><json:string>ectodermal</json:string><json:string>mutation</json:string><json:string>genet</json:string><json:string>dysplasia</json:string><json:string>diverent</json:string><json:string>nemo</json:string><json:string>receptor</json:string><json:string>hypohidrotic</json:string><json:string>syndrome</json:string><json:string>biol</json:string><json:string>ectodermal dysplasia</json:string><json:string>pathway</json:string><json:string>autosomal</json:string><json:string>phenotype</json:string><json:string>deafness</json:string><json:string>cell biol</json:string><json:string>hypohidrotic ectodermal dysplasia</json:string><json:string>recessive</json:string><json:string>epidermal</json:string><json:string>ectodermal dysplasias</json:string><json:string>characterised</json:string><json:string>afadin</json:string><json:string>adherens</json:string><json:string>priolo</json:string><json:string>avected</json:string><json:string>causative genes</json:string><json:string>candidate genes</json:string><json:string>adherens junction</json:string><json:string>causative</json:string><json:string>patients avected</json:string><json:string>retinal degeneration</json:string><json:string>epidermal appendages</json:string><json:string>anomaly</json:string><json:string>gene</json:string><json:string>mental retardation</json:string><json:string>clinical presentation</json:string><json:string>incontinentia pigmenti</json:string><json:string>biol chem</json:string><json:string>causative gene</json:string><json:string>pathological conditions</json:string><json:string>anhidrotic ectodermal dysplasia</json:string><json:string>transcription factors</json:string><json:string>defect</json:string><json:string>endocrine defects</json:string><json:string>adherens junctions</json:string><json:string>clouston disease</json:string><json:string>secondary involvement</json:string><json:string>autosomal recessive form</json:string><json:string>margarita type syndrome</json:string><json:string>cell morphology</json:string><json:string>cell adhesion</json:string><json:string>epidermal derivatives</json:string><json:string>nemo gene</json:string><json:string>variable expression</json:string><json:string>sweat gland function</json:string><json:string>codon mutation</json:string><json:string>clinical features</json:string><json:string>ectodermal derivatives</json:string><json:string>domaincontaining protein</json:string><json:string>cell compartment</json:string><json:string>good candidate genes</json:string><json:string>plasma membrane</json:string><json:string>anomalies avecting</json:string><json:string>plasma membrane domains</json:string><json:string>protein complexes</json:string><json:string>pathological mechanisms</json:string><json:string>tnfr superfamily gene</json:string><json:string>high homology</json:string><json:string>good candidate gene</json:string><json:string>functional interactions</json:string><json:string>general medicine</json:string><json:string>arch dermatol</json:string><json:string>pili torti</json:string><json:string>autosomal recessive</json:string><json:string>functional abnormalities</json:string><json:string>ectodermal fragility syndrome</json:string><json:string>novel member</json:string><json:string>other organs</json:string><json:string>transcription</json:string></teeft></keywords><author><json:item><name>Manuela Priolo</name><affiliations><json:string>Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</json:string></affiliations></json:item><json:item><name>Carmelo Laganà</name><affiliations><json:string>Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Dermatology</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ectodermal dysplasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>clinical-functional correlation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>epithelial-mesenchymal interaction</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ectodermal structural proteins</value></json:item></subject><language><json:string>eng</json:string></language><originalGenre><json:string>review-article</json:string></originalGenre><abstract>The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. 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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.</p></abstract><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Dermatology</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>keywords</head><item><term>ectodermal dysplasia</term></item><item><term>clinical-functional correlation</term></item><item><term>epithelial-mesenchymal interaction</term></item><item><term>ectodermal structural proteins</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2001-09-01">Created</change><change when="2001-09-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/B03B46B0A715D9949A52EC8E828CCAFB1716F9D5/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="review-article" xml:lang="EN"><front><journal-meta><journal-id journal-id-type="hwp">jmedgenet</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-id journal-id-type="publisher-id">jmg</journal-id><journal-title>Journal of Medical Genetics</journal-title><abbrev-journal-title abbrev-type="publisher">J Med Genet</abbrev-journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id>0153</article-id><article-id pub-id-type="other">jmedgenet;38/9/579</article-id><article-id pub-id-type="doi">10.1136/jmg.38.9.579</article-id><article-id pub-id-type="pmid">11546825</article-id><article-id pub-id-type="other">579</article-id><article-id pub-id-type="other">jmg.38.9.579</article-id><article-categories><subj-group subj-group-type="heading"><subject>Review article</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Dermatology</subject></subj-group></article-categories><title-group><article-title>Ectodermal dysplasias: a new clinical-genetic classification</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Priolo</surname><given-names>Manuela</given-names></name></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Laganà</surname><given-names>Carmelo</given-names></name></contrib></contrib-group><aff id="aff1">Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</aff><author-notes><corresp>Dr Priolo, <email xlink:type="simple">prioloma@libero.it</email></corresp></author-notes><pub-date pub-type="ppub"><day>1</day><month>9</month><year>2001</year></pub-date><pub-date pub-type="epub"><day>1</day><month>9</month><year>2001</year></pub-date><volume>38</volume><volume-id pub-id-type="other">38</volume-id><volume-id pub-id-type="other">38</volume-id><issue>9</issue><issue-id pub-id-type="other">jmedgenet;38/9</issue-id><issue-id pub-id-type="other">9</issue-id><issue-id pub-id-type="other">38/9</issue-id><fpage>579</fpage><permissions><copyright-statement>Journal of Medical Genetics</copyright-statement><copyright-year>2001</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-38-579.pdf"></self-uri><abstract><p>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.</p><p>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.</p><p>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.</p></abstract><kwd-group><kwd>ectodermal dysplasia</kwd><kwd>clinical-functional correlation</kwd><kwd>epithelial-mesenchymal interaction</kwd><kwd>ectodermal structural proteins</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Ectodermal dysplasias: a new clinical-genetic classification</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Ectodermal dysplasias: a new clinical-genetic classification</title></titleInfo><name type="personal"><namePart type="given">Manuela</namePart><namePart type="family">Priolo</namePart><affiliation>Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carmelo</namePart><namePart type="family">Laganà</namePart><affiliation>Operative Unit of Medical Genetics, Azienda Ospedaliera Bianchi-Melacrino- Morelli, Via Melacrino, 89100 Reggio Calabria, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="review-article" displayLabel="review-article"></genre><subject><genre>hwp-journal-coll</genre><topic>Dermatology</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2001-09-01</dateIssued><dateCreated encoding="w3cdtf">2001-09-01</dateCreated><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">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.</abstract><subject><genre>keywords</genre><topic>ectodermal dysplasia</topic><topic>clinical-functional correlation</topic><topic>epithelial-mesenchymal interaction</topic><topic>ectodermal structural proteins</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID">jmg</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2001</date><detail type="volume"><caption>vol.</caption><number>38</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>579</start></extent></part></relatedItem><identifier type="istex">B03B46B0A715D9949A52EC8E828CCAFB1716F9D5</identifier><identifier type="DOI">10.1136/jmg.38.9.579</identifier><identifier type="href">jmedgenet-38-579.pdf</identifier><identifier type="PMID">11546825</identifier><identifier type="local">jmedgenet;38/9/579</identifier><accessCondition type="use and reproduction" contentType="copyright">Journal of Medical Genetics</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><annexes><json:item><extension>jpeg</extension><original>true</original><mimetype>image/jpeg</mimetype><uri>https://api.istex.fr/document/B03B46B0A715D9949A52EC8E828CCAFB1716F9D5/annexes/jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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