Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?
Identifieur interne : 012C95 ( Main/Exploration ); précédent : 012C94; suivant : 012C96Hypotrichosis, 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
Affiliations:
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Le document en format XML
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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><wicri:noRegion>Streekziekenhuis Midden-Twente</wicri:noRegion></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><idno type="wicri:Area/PubMed/Checkpoint">004708</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004708</idno><idno type="wicri:Area/Ncbi/Merge">000803</idno><idno type="wicri:Area/Ncbi/Curation">000803</idno><idno type="wicri:Area/Ncbi/Checkpoint">000803</idno><idno type="wicri:doubleKey">1167-1122::Glade C:hypotrichosis:lymphedema:of</idno><idno type="wicri:Area/Main/Merge">013F14</idno><idno type="wicri:Area/Main/Curation">012C95</idno><idno type="wicri:Area/Main/Exploration">012C95</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><wicri:noRegion>Streekziekenhuis Midden-Twente</wicri:noRegion></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><affiliations><list><country><li>Pays-Bas</li></country></list><tree><noCountry><name sortKey="Steijlen, P M" sort="Steijlen, P M" uniqKey="Steijlen P" first="P M" last="Steijlen">P M Steijlen</name><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></noCountry><country name="Pays-Bas"><noRegion><name sortKey="Glade, C" sort="Glade, C" uniqKey="Glade C" first="C" last="Glade">C. Glade</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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