Distichiasis–lymphoedema: clinical features, venous function and lymphoscintigraphy
Identifieur interne : 004F96 ( Istex/Curation ); précédent : 004F95; suivant : 004F97Distichiasis–lymphoedema: clinical features, venous function and lymphoscintigraphy
Auteurs : J. L. Rosbotham ; G. W. Brice [Royaume-Uni] ; A. H. Child [Royaume-Uni] ; T. O. Nunan ; P. S. Mortimer ; K. G. Burnand [Royaume-Uni]Source :
- British Journal of Dermatology [ 0007-0963 ] ; 2000-01.
Abstract
Distichiasis–lymphoedema is a rare variant of the genetically determined lymphoedemas; distichiasis is the abnormal development of the meibomian glands causing aberrant growth of eyelashes. However, a better understanding of this clinically distinct subgroup may provide useful information on the genetic inheritance of all types of lymphoedema. This report provides phenotype data on a very large family with distichiasis–lymphoedema. Lymphoscintigraphy and light reflection rheography (venous function) were undertaken to identify the phenotype more clearly. As a result of lymphoscintigraphy several subjects were reclassified phenotypically (unaffected or affected) with implications for genetic linkage studies. Associated congenital abnormalities were found and venous abnormalities were almost always present in affected limbs. A dominant inheritance with incomplete penetrance was confirmed.
Url:
DOI: 10.1046/j.1365-2133.2000.03258.x
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :004F96
Links to Exploration step
ISTEX:A9CAC7CBF7DF36EA6E76D9BFC5139C78524FD58FCuration
No country items
J. L. Rosbotham<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
<affiliation><mods:affiliation>Departments of Nuclear Medicine and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Nuclear Medicine and</wicri:noCountry>
</affiliation>
<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Distichiasis–lymphoedema: clinical features, venous function and lymphoscintigraphy</title>
<author><name sortKey="Rosbotham, J L" sort="Rosbotham, J L" uniqKey="Rosbotham J" first="J. L." last="Rosbotham">J. L. Rosbotham</name>
<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Brice, G W" sort="Brice, G W" uniqKey="Brice G" first="G. W." last="Brice">G. W. Brice</name>
<affiliation wicri:level="1"><mods:affiliation>Cardiological Sciences, St George’s Hospital, Blackshaw Road, London SW17, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Cardiological Sciences, St George’s Hospital, Blackshaw Road, London SW17</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Child, A H" sort="Child, A H" uniqKey="Child A" first="A. H." last="Child">A. H. Child</name>
<affiliation wicri:level="1"><mods:affiliation>Cardiological Sciences, St George’s Hospital, Blackshaw Road, London SW17, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Cardiological Sciences, St George’s Hospital, Blackshaw Road, London SW17</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nunan, T O" sort="Nunan, T O" uniqKey="Nunan T" first="T. O." last="Nunan">T. O. Nunan</name>
<affiliation><mods:affiliation>Departments of Nuclear Medicine and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Nuclear Medicine and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Mortimer, P S" sort="Mortimer, P S" uniqKey="Mortimer P" first="P. S." last="Mortimer">P. S. Mortimer</name>
<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Burnand, K G" sort="Burnand, K G" uniqKey="Burnand K" first="K. G." last="Burnand">K. G. Burnand</name>
<affiliation wicri:level="1"><mods:affiliation>Academic Surgery, St Thomas’ Hospital, London SE1, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Academic Surgery, St Thomas’ Hospital, London SE1</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:A9CAC7CBF7DF36EA6E76D9BFC5139C78524FD58F</idno>
<date when="2000" year="2000">2000</date>
<idno type="doi">10.1046/j.1365-2133.2000.03258.x</idno>
<idno type="url">https://api.istex.fr/document/A9CAC7CBF7DF36EA6E76D9BFC5139C78524FD58F/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">004F96</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">004F96</idno>
<idno type="wicri:Area/Istex/Curation">004F96</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main">Distichiasis–lymphoedema: clinical features, venous function and lymphoscintigraphy</title>
<author><name sortKey="Rosbotham, J L" sort="Rosbotham, J L" uniqKey="Rosbotham J" first="J. L." last="Rosbotham">J. L. Rosbotham</name>
<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Brice, G W" sort="Brice, G W" uniqKey="Brice G" first="G. W." last="Brice">G. W. Brice</name>
<affiliation wicri:level="1"><mods:affiliation>Cardiological Sciences, St George’s Hospital, Blackshaw Road, London SW17, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Cardiological Sciences, St George’s Hospital, Blackshaw Road, London SW17</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Child, A H" sort="Child, A H" uniqKey="Child A" first="A. H." last="Child">A. H. Child</name>
<affiliation wicri:level="1"><mods:affiliation>Cardiological Sciences, St George’s Hospital, Blackshaw Road, London SW17, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Cardiological Sciences, St George’s Hospital, Blackshaw Road, London SW17</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nunan, T O" sort="Nunan, T O" uniqKey="Nunan T" first="T. O." last="Nunan">T. O. Nunan</name>
<affiliation><mods:affiliation>Departments of Nuclear Medicine and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Nuclear Medicine and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Mortimer, P S" sort="Mortimer, P S" uniqKey="Mortimer P" first="P. S." last="Mortimer">P. S. Mortimer</name>
<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Burnand, K G" sort="Burnand, K G" uniqKey="Burnand K" first="K. G." last="Burnand">K. G. Burnand</name>
<affiliation wicri:level="1"><mods:affiliation>Academic Surgery, St Thomas’ Hospital, London SE1, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Academic Surgery, St Thomas’ Hospital, London SE1</wicri:regionArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">British Journal of Dermatology</title>
<title level="j" type="alt">BRITISH JOURNAL OF DERMATOLOGY</title>
<idno type="ISSN">0007-0963</idno>
<idno type="eISSN">1365-2133</idno>
<imprint><biblScope unit="vol">142</biblScope>
<biblScope unit="issue">1</biblScope>
<biblScope unit="page" from="148">148</biblScope>
<biblScope unit="page" to="152">152</biblScope>
<biblScope unit="page-count">5</biblScope>
<publisher>Blackwell Science Ltd</publisher>
<pubPlace>Oxford, UK</pubPlace>
<date type="published" when="2000-01">2000-01</date>
</imprint>
<idno type="ISSN">0007-0963</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0007-0963</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Distichiasis–lymphoedema is a rare variant of the genetically determined lymphoedemas; distichiasis is the abnormal development of the meibomian glands causing aberrant growth of eyelashes. However, a better understanding of this clinically distinct subgroup may provide useful information on the genetic inheritance of all types of lymphoedema. This report provides phenotype data on a very large family with distichiasis–lymphoedema. Lymphoscintigraphy and light reflection rheography (venous function) were undertaken to identify the phenotype more clearly. As a result of lymphoscintigraphy several subjects were reclassified phenotypically (unaffected or affected) with implications for genetic linkage studies. Associated congenital abnormalities were found and venous abnormalities were almost always present in affected limbs. A dominant inheritance with incomplete penetrance was confirmed.</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004F96 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 004F96 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Istex |étape= Curation |type= RBID |clé= ISTEX:A9CAC7CBF7DF36EA6E76D9BFC5139C78524FD58F |texte= Distichiasis–lymphoedema: clinical features, venous function and lymphoscintigraphy }}
This area was generated with Dilib version V0.6.31. |