Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?
Identifieur interne : 004708 ( PubMed/Curation ); précédent : 004707; suivant : 004709Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?
Auteurs : C. Glade [Pays-Bas] ; M A Van Steensel ; P M SteijlenSource :
- European journal of dermatology : EJD [ 1167-1122 ]
Descripteurs français
- KwdFr :
- Consanguinité, Diagnostic différentiel, Enfant, Femelle, Humains, Hypotrichose (diagnostic), Hypotrichose (génétique), Jambe, Lymphoedème (diagnostic), Lymphoedème (génétique), Pedigree, Syndrome, Syndrome de Klippel-Trénaunay (diagnostic), Syndrome de Noonan (diagnostic), Télangiectasie (diagnostic), Télangiectasie (génétique).
- MESH :
- diagnostic : Hypotrichose, Lymphoedème, Syndrome de Klippel-Trénaunay, Syndrome de Noonan, Télangiectasie.
- génétique : Hypotrichose, Lymphoedème, Télangiectasie.
- Consanguinité, Diagnostic différentiel, Enfant, Femelle, Humains, Jambe, Pedigree, Syndrome.
English descriptors
- KwdEn :
- Child, Consanguinity, Diagnosis, Differential, Female, Humans, Hypotrichosis (diagnosis), Hypotrichosis (genetics), Klippel-Trenaunay-Weber Syndrome (diagnosis), Leg, Lymphedema (diagnosis), Lymphedema (genetics), Noonan Syndrome (diagnosis), Pedigree, Syndrome, Telangiectasis (diagnosis), Telangiectasis (genetics).
- MESH :
- diagnosis : Hypotrichosis, Klippel-Trenaunay-Weber Syndrome, Lymphedema, Noonan Syndrome, Telangiectasis.
- genetics : Hypotrichosis, Lymphedema, Telangiectasis.
- Child, Consanguinity, Diagnosis, Differential, Female, Humans, Leg, Pedigree, Syndrome.
Abstract
We describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata limited to acral regions. We discuss the possibility that this girl suffers from Noonan/cardio-facio-cutaneous syndrome. We conclude that the combination of symptoms listed here probably represents a new syndrome for which we propose the name hypotrichosis-lymphedema-telangiectasia syndrome.
PubMed: 11701398
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Glade</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Department, Streekziekenhuis Midden-Twente, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Dermatology Department, Streekziekenhuis Midden-Twente</wicri:regionArea></affiliation></author><author><name sortKey="Van Steensel, M A" sort="Van Steensel, M A" uniqKey="Van Steensel M" first="M A" last="Van Steensel">M A Van Steensel</name></author><author><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P M" last="Steijlen">P M Steijlen</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="????"><PubDate><MedlineDate>2001 Nov-Dec</MedlineDate></PubDate></date><idno type="RBID">pubmed:11701398</idno><idno type="pmid">11701398</idno><idno type="wicri:Area/PubMed/Corpus">004708</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004708</idno><idno type="wicri:Area/PubMed/Curation">004708</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004708</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?</title><author><name sortKey="Glade, C" sort="Glade, C" uniqKey="Glade C" first="C" last="Glade">C. Glade</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Department, Streekziekenhuis Midden-Twente, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Dermatology Department, Streekziekenhuis Midden-Twente</wicri:regionArea></affiliation></author><author><name sortKey="Van Steensel, M A" sort="Van Steensel, M A" uniqKey="Van Steensel M" first="M A" last="Van Steensel">M A Van Steensel</name></author><author><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P M" last="Steijlen">P M Steijlen</name></author></analytic><series><title level="j">European journal of dermatology : EJD</title><idno type="ISSN">1167-1122</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Consanguinity</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Hypotrichosis (diagnosis)</term><term>Hypotrichosis (genetics)</term><term>Klippel-Trenaunay-Weber Syndrome (diagnosis)</term><term>Leg</term><term>Lymphedema (diagnosis)</term><term>Lymphedema (genetics)</term><term>Noonan Syndrome (diagnosis)</term><term>Pedigree</term><term>Syndrome</term><term>Telangiectasis (diagnosis)</term><term>Telangiectasis (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Consanguinité</term><term>Diagnostic différentiel</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Hypotrichose (diagnostic)</term><term>Hypotrichose (génétique)</term><term>Jambe</term><term>Lymphoedème (diagnostic)</term><term>Lymphoedème (génétique)</term><term>Pedigree</term><term>Syndrome</term><term>Syndrome de Klippel-Trénaunay (diagnostic)</term><term>Syndrome de Noonan (diagnostic)</term><term>Télangiectasie (diagnostic)</term><term>Télangiectasie (génétique)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hypotrichosis</term><term>Klippel-Trenaunay-Weber Syndrome</term><term>Lymphedema</term><term>Noonan Syndrome</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Hypotrichose</term><term>Lymphoedème</term><term>Syndrome de Klippel-Trénaunay</term><term>Syndrome de Noonan</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hypotrichosis</term><term>Lymphedema</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Hypotrichose</term><term>Lymphoedème</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Consanguinity</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Leg</term><term>Pedigree</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Consanguinité</term><term>Diagnostic différentiel</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Jambe</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata limited to acral regions. We discuss the possibility that this girl suffers from Noonan/cardio-facio-cutaneous syndrome. We conclude that the combination of symptoms listed here probably represents a new syndrome for which we propose the name hypotrichosis-lymphedema-telangiectasia syndrome.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">11701398</PMID><DateCreated><Year>2001</Year><Month>11</Month><Day>09</Day></DateCreated><DateCompleted><Year>2001</Year><Month>12</Month><Day>18</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1167-1122</ISSN><JournalIssue CitedMedium="Print"><Volume>11</Volume><Issue>6</Issue><PubDate><MedlineDate>2001 Nov-Dec</MedlineDate></PubDate></JournalIssue><Title>European journal of dermatology : EJD</Title><ISOAbbreviation>Eur J Dermatol</ISOAbbreviation></Journal><ArticleTitle>Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?</ArticleTitle><Pagination><MedlinePgn>515-7</MedlinePgn></Pagination><Abstract><AbstractText>We describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata limited to acral regions. We discuss the possibility that this girl suffers from Noonan/cardio-facio-cutaneous syndrome. We conclude that the combination of symptoms listed here probably represents a new syndrome for which we propose the name hypotrichosis-lymphedema-telangiectasia syndrome.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Glade</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Dermatology Department, Streekziekenhuis Midden-Twente, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Steensel</LastName><ForeName>M A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Steijlen</LastName><ForeName>P M</ForeName><Initials>PM</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>France</Country><MedlineTA>Eur J Dermatol</MedlineTA><NlmUniqueID>9206420</NlmUniqueID><ISSNLinking>1167-1122</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003937" MajorTopicYN="N">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007039" MajorTopicYN="N">Hypotrichosis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007715" MajorTopicYN="N">Klippel-Trenaunay-Weber Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007866" MajorTopicYN="N">Leg</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009634" MajorTopicYN="N">Noonan Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013684" MajorTopicYN="N">Telangiectasis</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year><Month>11</Month><Day>10</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>1</Month><Day>5</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2001</Year><Month>11</Month><Day>10</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11701398</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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