Lipedema: An inherited condition
Identifieur interne : 005C87 ( Main/Exploration ); précédent : 005C86; suivant : 005C88Lipedema: An inherited condition
Auteurs : Anne H. Child [Royaume-Uni] ; Kristiana D. Gordon [Royaume-Uni] ; Pip Sharpe [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-04.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Femelle, Graisse sous-cutanée (anatomopathologie), Humains, Jambe (anatomopathologie), Lymphoedème (anatomopathologie), Modes de transmission héréditaire (génétique), Mâle, Obésité (anatomopathologie), Oedème (anatomopathologie), Oedème (génétique), Pedigree, Phénotype, Sujet âgé.
- MESH :
- anatomopathologie : Graisse sous-cutanée, Jambe, Lymphoedème, Obésité, Oedème.
- génétique : Modes de transmission héréditaire, Oedème.
- Adulte, Adulte d'âge moyen, Femelle, Humains, Mâle, Pedigree, Phénotype, Sujet âgé.
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Autosomal character, Dominant character, Edema (genetics), Edema (pathology), Female, Genetic disease, Humans, Inheritance Patterns (genetics), Leg (pathology), Lipodystrophy, Lipoedema, Lymphedema, Lymphedema (pathology), Male, Middle Aged, Obesity (pathology), Pedigree, Phenotype, Sex linked character, Subcutaneous Fat (pathology), X-Chromosome.
- MESH :
- genetics : Edema, Inheritance Patterns.
- pathology : Edema, Leg, Lymphedema, Obesity, Subcutaneous Fat.
- Adult, Aged, Female, Humans, Male, Middle Aged, Pedigree, Phenotype.
Abstract
Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition of subcutaneous fat. Lipedema is an under‐recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X‐linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen‐requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas. © 2010 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.33313
Affiliations:
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Le document en format XML
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Gordon</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Dermatology, St. George's Hospital NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Sharpe, Pip" sort="Sharpe, Pip" uniqKey="Sharpe P" first="Pip" last="Sharpe">Pip Sharpe</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardiac and Vascular Sciences, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Unit, St. George's, University of London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region><settlement type="city">Londres</settlement></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics Unit, Clinical Developmental Sciences, St. George's, University of London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Genetics Unit, Clinical Developmental Sciences, St. George's, University of London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. 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Lipedema is an under‐recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X‐linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen‐requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas. © 2010 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name></region><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name><name sortKey="Gordon, Kristiana D" sort="Gordon, Kristiana D" uniqKey="Gordon K" first="Kristiana D." last="Gordon">Kristiana D. Gordon</name><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name><name sortKey="Sharpe, Pip" sort="Sharpe, Pip" uniqKey="Sharpe P" first="Pip" last="Sharpe">Pip Sharpe</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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