The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review
Identifieur interne : 000D80 ( Pmc/Checkpoint ); précédent : 000D79; suivant : 000D81The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review
Auteurs : Giles Atton [Royaume-Uni] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Vaughan Keeley [Royaume-Uni] ; Katie Riches [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Sahar Mansour [Royaume-Uni]Source :
- European Journal of Human Genetics [ 1018-4813 ] ; 2015.
Abstract
Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000–1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.
Url:
DOI: 10.1038/ejhg.2015.41
PubMed: 25804399
PubMed Central: 4486366
Affiliations:
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<front><div type="abstract" xml:lang="en"><p>Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000–1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.</p>
</div>
</front>
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<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id>
<journal-title-group><journal-title>European Journal of Human Genetics</journal-title>
</journal-title-group>
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<issn pub-type="epub">1476-5438</issn>
<publisher><publisher-name>Nature Publishing Group</publisher-name>
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<article-id pub-id-type="doi">10.1038/ejhg.2015.41</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
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<title-group><article-title>The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review</article-title>
<alt-title alt-title-type="running">The lymphatic phenotype in Turner syndrome</alt-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Atton</surname>
<given-names>Giles</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gordon</surname>
<given-names>Kristiana</given-names>
</name>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brice</surname>
<given-names>Glen</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="aff" rid="aff2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Keeley</surname>
<given-names>Vaughan</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Riches</surname>
<given-names>Katie</given-names>
</name>
<xref ref-type="aff" rid="aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ostergaard</surname>
<given-names>Pia</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mortimer</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mansour</surname>
<given-names>Sahar</given-names>
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<xref ref-type="aff" rid="aff1">1</xref>
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</aff>
<aff id="aff2"><label>2</label>
<institution>Department of Dermatology, St. George's Hospital NHS Trust</institution>
, London,<country>UK</country>
</aff>
<aff id="aff3"><label>3</label>
<institution>Lymphoedema Clinic, Derby Hospitals Foundation NHS Trust</institution>
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</aff>
<aff id="aff4"><label>4</label>
<institution>Lymphovascular Research Unit, Division of Cardiovascular and Cell Sciences, St George's, University of London</institution>
, London,<country>UK</country>
</aff>
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<author-notes><corresp id="caf1"><label>*</label>
<institution>South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, Tooting</institution>
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. Tel: +44 20 8725 0957; Fax: +44 20 8725 3444; E-mail: <email>smansour@sgul.ac.uk</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>12</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="epub"><day>25</day>
<month>03</month>
<year>2015</year>
</pub-date>
<volume>23</volume>
<issue>12</issue>
<fpage>1634</fpage>
<lpage>1639</lpage>
<history><date date-type="received"><day>21</day>
<month>09</month>
<year>2014</year>
</date>
<date date-type="rev-recd"><day>19</day>
<month>12</month>
<year>2014</year>
</date>
<date date-type="accepted"><day>06</day>
<month>01</month>
<year>2015</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2015 Macmillan Publishers Limited</copyright-statement>
<copyright-year>2015</copyright-year>
<copyright-holder>Macmillan Publishers Limited</copyright-holder>
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<abstract><p>Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000–1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.</p>
</abstract>
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