Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?
Identifieur interne : 012C95 ( Main/Curation ); 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :004708
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :004708
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :004708
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :000803
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :000803
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000803
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :013F14
Links to Exploration step
pubmed:11701398Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><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>
</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>
</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>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 012C95 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 012C95 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Main |étape= Curation |type= RBID |clé= pubmed:11701398 |texte= Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome? }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Curation/RBID.i -Sk "pubmed:11701398" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |