Journal ArticleDOI
Lipedema: an inherited condition.
Anne H. Child,Kristiana Gordon,Pip Sharpe,Glen Brice,Pia Ostergaard,Steve Jeffery,Peter S. Mortimer +6 more
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TLDR
It is proposed that lipedema is a genetic condition with either X‐linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation, and appears to be a condition almost exclusively affecting females, presumably estrogen‐requiring as it usually manifests at puberty.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.read more
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Summary document on safety and recommendations on liposuction for lipoedema: Joint British association of aesthetic plastic surgeons (BAAPS)/British association of plastic reconstructive and aesthetic surgeons (BAPRAS) expert liposuction group.
Anne Dancey,Marc D. Pacifico,Muholan Kanapathy,Anthony MacQuillan,G. L. Ross,Afshin Mosahebi +5 more
TL;DR: In this paper , the authors present a guidance on lipoedema management based on the evidence available in the literature, along with a specialist expert opinion on liposuction for lip oedema, to provide plastic surgeons with a consensus recommendation for surgical treatment.
Journal ArticleDOI
Lipedema and lipedematous scalp: An overview
Lulua Safar,Sandhya George +1 more
TL;DR: The goals of this article are to explain the etiology, clinical features, and treatment options for lipedema and lipedematous scalp (two relatively less known conditions), as well as to highlight their diagnostic features.
Journal ArticleDOI
Survey of lipoedema symptoms and experience with compression garments
Ilka Paling,Lisa Macintyre +1 more
TL;DR: Most people with lipoedema who wore compression garments found compression helpful in managing their symptoms, but overall satisfaction was low.
Journal ArticleDOI
Suggested physical therapy protocol for reduction of lipomatosis dolorosa of the legs
Mohamed Khalaf,Haidy N. Ashem +1 more
TL;DR: It could be concluded that, suggested physical therapy protocol consisting of a complete decongestive physical therapy program and diet regimen had an effect in the treatment of lipomatosis dolorosa of the legs in females.
Journal ArticleDOI
Surgical lymphology. Therapy option for lymphoedema and lipohyperplasia dolorosa
TL;DR: A combination of two-stage application of resection and reconstruction in lymphoedema is still a "work in progress" as the concept of prophylactic lymphatic venous anastomosis (LVA) as mentioned in this paper .
References
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Journal ArticleDOI
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
Andrew Shenker,Laue L,Shinji Kosugi,Shinji Kosugi,John J. Merendino,Takashi Minegishi,Gordon B. Cutler +6 more
TL;DR: COS-7 cells expressing the mutant LH receptor exhibited markedly increased cyclic AMP production in the absence of agonist, suggesting that autonomous Leydig cell activity in FMPP is caused by a constitutively activated LH receptor.
Journal ArticleDOI
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Leanne M. Dibbens,Leanne M. Dibbens,Patrick S. Tarpey,Kim Hynes,Kim Hynes,Marta A. Bayly,Ingrid E. Scheffer,Raffaella Smith,Jamee M. Bomar,Edwina Sutton,Lucianne Vandeleur,Cheryl Shoubridge,Sarah Edkins,Samantha J. Turner,Claire Stevens,Sarah O’Meara,Calli Tofts,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kelly Halliday,David T. Jones,Rebecca Lee,Mark Madison,Tatiana Mironenko,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,John Teague,Ed Dicks,Adam Butler,Andrew Menzies,Andrew M. Jenkinson,Rebecca Shepherd,James F. Gusella,Zaid Afawi,Aziz Mazarib,Miriam Y. Neufeld,Sara Kivity,Dorit Lev,Tally Lerman-Sagie,Amos D. Korczyn,Christopher P. Derry,Grant R. Sutherland,Grant R. Sutherland,Kathryn Friend,Marie Shaw,Mark A. Corbett,Hyung Goo Kim,Daniel H. Geschwind,Paul Q. Thomas,Eric Haan,Eric Haan,Stephen G Ryan,Shane McKee,Samuel F. Berkovic,P. Andrew Futreal,Michael R. Stratton,John C. Mulley,John C. Mulley,Jozef Gecz,Jozef Gecz +62 more
TL;DR: In this paper, a systematic resequencing of 737 X chromosome genes was carried out to identify different protocadherin 19 (PCDH19) gene mutations in seven families with EFMR.
X-Linked Protocadherin 19 Mutations Cause Female-Limited Epilepsy and Cognitive Impairment. Dibbens LM,
Geneviève Albouy,Annabelle Darsaud,S. Gais,Sterpenich,Gilles Vandewalle,Gustave Moonen,Evelyne Balteau,A. Luxen,Christophe Phillips,Tarpey Ps,Hynes K,Bayly Ma,IE Scheffer,Smith R,Bomar J,Sutton E,Vandeleur L,Shoubridge C,Sarah Edkins,Turner Sj,Claire Stevens,Tofts C,Cole J,Kelly Halliday,Lee R,West S,Sara Widaa,Wray P,Jon W. Teague,Ed Dicks,Andy Menzies,Andy Jenkinson,Rebecca Shepherd,Aziz Mazarib,Kivity S,Kim Hg,Paul Q. Thomas,E. Haan,Ryan S,McKee S,Michael R. Stratton,Mulley Jc,J Gecz +42 more
TL;DR: Seven protocadherin 19 (PCDH19) gene mutations in seven families with EFMR resulted in the introduction of a premature termination codon and two missense mutations were predicted to affect adhesiveness of PCDH19 through impaired calcium binding.
Journal ArticleDOI
Lipedema of the legs: a syndrome characterized by fat legs and edema
TL;DR: There is little in the literature on abnormal localized depositions of body fat to clarify the syndrome of lipedema of the legs, but two of us (E. V. and E. A. H.) described it in 1940.