Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation
Identifieur interne : 002E53 ( Istex/Corpus ); précédent : 002E52; suivant : 002E54Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation
Auteurs : Kamaldeep Sandhu ; Sanjeev Handa ; A. J. KanwarSource :
- International Journal of Dermatology [ 0011-9059 ] ; 2007-06.
English descriptors
- KwdEn :
- Anhidrotic, Anhidrotic ectodermal dysplasia, Case report, Complete absence, Dental abnormalities, Dermatology, Dysplasia, Early childhood, Ectodermal, Ectodermal dysplasia, Genet, Hereditary ectodermal dysplasia, Hidrotic ectodermal dysplasia, Hypohidrotic, Hypohidrotic ectodermal dysplasia, International journal, International society, Keratoderma, Maternal uncle, Medical education, Medical genetics, Mental retardation, Palmoplantar, Palmoplantar keratoderma, Primary hypogonadism, Sandhu, Sparse hair, Sweat glands, Younger brother.
- Teeft :
- Anhidrotic, Anhidrotic ectodermal dysplasia, Case report, Complete absence, Dental abnormalities, Dermatology, Dysplasia, Early childhood, Ectodermal, Ectodermal dysplasia, Genet, Hereditary ectodermal dysplasia, Hidrotic ectodermal dysplasia, Hypohidrotic, Hypohidrotic ectodermal dysplasia, International journal, International society, Keratoderma, Maternal uncle, Medical education, Medical genetics, Mental retardation, Palmoplantar, Palmoplantar keratoderma, Primary hypogonadism, Sandhu, Sparse hair, Sweat glands, Younger brother.
Abstract
Anhidrotic ectodermal dysplasia (AED), or Christ–Siemens–Touraine syndrome, was first described in 1848 by Thurnam.1 It is characterized by a partial or complete absence of sweat glands, hypotrichosis and hypodontia. The mode of inheritance is predominantly X‐linked but an autosomal recessive pattern has also been observed.2 Palmoplantar keratoderma is classically a component of hidrotic ectodermal dysplasia;3 however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.
Url:
DOI: 10.1111/j.1365-4632.2007.02432.x
Links to Exploration step
ISTEX:5EDBBEE7D9555195F885107CB9502AE10D56A4F0Le document en format XML
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J.</forename><surname>Kanwar</surname><roleName type="degree">MD</roleName></persName><affiliation>From the Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India<address><country key="IN"></country></address></affiliation></author><idno type="istex">5EDBBEE7D9555195F885107CB9502AE10D56A4F0</idno><idno type="ark">ark:/67375/WNG-N075SQVP-Z</idno><idno type="DOI">10.1111/j.1365-4632.2007.02432.x</idno><idno type="unit">IJD2432</idno><idno type="toTypesetVersion">file:IJD.IJD2432.pdf</idno></analytic><monogr><title level="j" type="main">International Journal of Dermatology</title><title level="j" type="alt">INTERNATIONAL JOURNAL OF DERMATOLOGY</title><idno type="pISSN">0011-9059</idno><idno type="eISSN">1365-4632</idno><idno type="book-DOI">10.1111/(ISSN)1365-4632</idno><idno type="book-part-DOI">10.1111/ijd.2007.46.issue-6</idno><idno type="product">IJD</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">46</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="631">631</biblScope><biblScope unit="page" to="633">633</biblScope><biblScope unit="page-count">3</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2007-06"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><p>Anhidrotic ectodermal dysplasia (AED), or Christ–Siemens–Touraine syndrome, was first described in 1848 by Thurnam.<ref type="bibl" target="#b1"><hi rend="superscript">1</hi></ref> It is characterized by a partial or complete absence of sweat glands, hypotrichosis and hypodontia. The mode of inheritance is predominantly X‐linked but an autosomal recessive pattern has also been observed.<ref type="bibl" target="#b2"><hi rend="superscript">2</hi></ref> Palmoplantar keratoderma is classically a component of hidrotic ectodermal dysplasia;<ref type="bibl" target="#b3"><hi rend="superscript">3</hi></ref> however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.</p></abstract><textClass><keywords rend="tocHeading1"><term>Medical genetics: Case report</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/5EDBBEE7D9555195F885107CB9502AE10D56A4F0/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1365-4632</doi><issn type="print">0011-9059</issn><issn type="electronic">1365-4632</issn><idGroup><id type="product" value="IJD"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="INTERNATIONAL JOURNAL OF DERMATOLOGY">International Journal of Dermatology</title></titleGroup></publicationMeta><publicationMeta level="part" position="06006"><doi origin="wiley">10.1111/ijd.2007.46.issue-6</doi><numberingGroup><numbering type="journalVolume" number="46">46</numbering><numbering type="journalIssue" number="6">6</numbering></numberingGroup><coverDate startDate="2007-06">June 2007</coverDate></publicationMeta><publicationMeta level="unit" type="caseStudy" position="18" status="forIssue"><doi origin="wiley">10.1111/j.1365-4632.2007.02432.x</doi><idGroup><id type="unit" value="IJD2432"></id></idGroup><countGroup><count type="pageTotal" number="3"></count></countGroup><titleGroup><title type="tocHeading1">Medical genetics: Case report</title></titleGroup><eventGroup><event type="firstOnline" date="2007-06-05"></event><event type="publishedOnlineFinalForm" date="2007-06-05"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-04"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:4.0.1" date="2014-03-13"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-24"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="631">631</numbering><numbering type="pageLast" number="633">633</numbering></numberingGroup><correspondenceTo> A. J. Kanwar, MD Department of Dermatology, Venereology and Leprology Postgraduate Institute of Medical Education and Research Chandigarh, India E‐mail: <email>kda_sandhu@yahoo.co.in</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:IJD.IJD2432.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="5"></count><count type="tableTotal" number="0"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="13"></count><count type="wordTotal" number="803"></count></countGroup><titleGroup><title type="main">Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation</title><title type="shortAuthors"><i>Sandhu</i> et al.</title><title type="short">Anhidrotic ectodermal dysplasia</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#aff-1-1"><personName><givenNames>Kamaldeep</givenNames><familyName>Sandhu</familyName><degrees>MD</degrees></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#aff-1-1"><personName><givenNames>Sanjeev</givenNames><familyName>Handa</familyName><degrees>MD</degrees></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#aff-1-1"><personName><givenNames>A. J.</givenNames><familyName>Kanwar</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="aff-1-1" countryCode="IN"><unparsedAffiliation>From the Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><p>Anhidrotic ectodermal dysplasia (AED), or Christ–Siemens–Touraine syndrome, was first described in 1848 by Thurnam.<link href="#b1"><sup>1</sup></link> It is characterized by a partial or complete absence of sweat glands, hypotrichosis and hypodontia. The mode of inheritance is predominantly X‐linked but an autosomal recessive pattern has also been observed.<link href="#b2"><sup>2</sup></link> Palmoplantar keratoderma is classically a component of hidrotic ectodermal dysplasia;<link href="#b3"><sup>3</sup></link> however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Anhidrotic ectodermal dysplasia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation</title></titleInfo><name type="personal"><namePart type="given">Kamaldeep</namePart><namePart type="family">Sandhu</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>From the Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sanjeev</namePart><namePart type="family">Handa</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>From the Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A. J.</namePart><namePart type="family">Kanwar</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>From the Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="case-report" displayLabel="caseStudy" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-29919SZJ-6">case-report</genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2007-06</dateIssued><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">5</extent><extent unit="tables">0</extent><extent unit="formulas">0</extent><extent unit="references">13</extent><extent unit="words">803</extent></physicalDescription><abstract lang="en">Anhidrotic ectodermal dysplasia (AED), or Christ–Siemens–Touraine syndrome, was first described in 1848 by Thurnam.1 It is characterized by a partial or complete absence of sweat glands, hypotrichosis and hypodontia. The mode of inheritance is predominantly X‐linked but an autosomal recessive pattern has also been observed.2 Palmoplantar keratoderma is classically a component of hidrotic ectodermal dysplasia;3 however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.</abstract><relatedItem type="host"><titleInfo><title>International Journal of Dermatology</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><identifier type="ISSN">0011-9059</identifier><identifier type="eISSN">1365-4632</identifier><identifier type="DOI">10.1111/(ISSN)1365-4632</identifier><identifier type="PublisherID">IJD</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>46</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>631</start><end>633</end><total>3</total></extent></part></relatedItem><identifier type="istex">5EDBBEE7D9555195F885107CB9502AE10D56A4F0</identifier><identifier type="ark">ark:/67375/WNG-N075SQVP-Z</identifier><identifier type="DOI">10.1111/j.1365-4632.2007.02432.x</identifier><identifier type="ArticleID">IJD2432</identifier><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/5EDBBEE7D9555195F885107CB9502AE10D56A4F0/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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