Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?
Identifieur interne : 000803 ( Ncbi/Curation ); précédent : 000802; suivant : 000804Hypotrichosis, 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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pubmed:11701398Le document en format XML
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<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>
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<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>
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<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>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hypotrichosis</term>
<term>Lymphedema</term>
<term>Telangiectasis</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Hypotrichose</term>
<term>Lymphoedème</term>
<term>Télangiectasie</term>
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<term>Consanguinity</term>
<term>Diagnosis, Differential</term>
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<term>Pedigree</term>
<term>Syndrome</term>
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<term>Diagnostic différentiel</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Jambe</term>
<term>Pedigree</term>
<term>Syndrome</term>
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<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>
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