ISSN: 1309 - 3843 E-ISSN: 1307 - 7384
FİZİKSEL TIP VE REHABİLİTASYON
BİLİMLERİ DERGİSİ
www.jpmrs.com
Kayıtlı İndexler


OLGU SUNUMLARI

Gebelik Sonrası Meydana Gelen Barraquer-Simons Sendromu: Nadir Görülen Bir Olgu
Barraquer-Simons Syndrome Occurred After Pregnancy: A Rare Case Report
Received Date : 23 Oct 2017
Accepted Date : 03 Jan 2018
Doi: 10.31609/jpmrs.2017-58127 - Makale Dili: EN
J PMR Sci 2019;22(1):33-5
ÖZET
Lipodistrofiler genetik veya sonradan edinilen vücutta değişik derecelerde yağ doku kaybı ile seyreden bir grup metabolik bozukluklardır. Barraquer-Simons sendromu diğer ismi ile “Edinilmiş Parsiyel Lökodistrofi” parsiyel lökodistrofilerin bir formudur. Etiyolojisi bilinmemektedir ve genellikle üst ekstremitede yağ doku kaybı ile seyretmektedir. Bunun dışında hipokomplemantemi, diyabet ve hipertrigliseridemi ile ilişkili olabilmektedir. Bu yazıda gebelik sonrasında üst kolda ilerleyici subkutan yağ doku kaybı olan Barraquer-Simons sendromlu 34 yaşındaki kadın olgu sunulmuştur ve bu olgu ile ilgili literatür bilgileri gözden geçirilmiştir.
ABSTRACT
Lipodystrophies are a widespread group of genetic or acquired metabolic disorders that are characterized by varying degrees of body fat loss. The Barraquer-Simons syndrome also called Acquired Partial Lipodistrophy is a form of partial lipodistrophy of unknown etiology, characterised by the loss of subcutaneous adipose tissue, limited to upper part of the body. Also it can be associated with hypocomplementemia, diabetes, and hypertriglyceridemia. In this paper a 34-year-old woman with progresive loss of subcutaneous fat limited to upper arm, which was developed after pregnancy, is reported and literature was reviewed.
REFERENCES
  1. Capeau J, Magre J, Caron-Debarle M, et al. Human lipodystrophies: genetic and acquired diseases of adipose tissue. Endocr Dev. 2010;19:1-20. [Crossref]  [PubMed] 
  2. Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011;96:3313-25. [Crossref]  [PubMed] 
  3. Garg A. Lipodystrophies. Am J Med. 2000; 108:143-52. [Crossref] 
  4. Oliveira J, Freitas P, Lau E, et al. Barraquer-Simons syndrome: a rare form of acquired lipodystrophy. BMC Res Notes. 2016;18:9: 175.
  5. Ferrarini A, Milani D, Bottigelli M, et al. Two new cases of Barraquer-Simons syndrome. Am J Med Genet. 2004;126A:427-9. [Crossref]  [PubMed] 
  6. Fardet L, Vigouroux C, Capeau J. Syndromes lipodystrophiques-Lipodystrophies. La Revue de Medecine Interne. 2013;34:614-22. [Crossref]  [PubMed] 
  7. Requena Caballero C, Angel Navarro Mira M, Bosch IF, et al. Barraquer-Simons lipodystrophy associated with antiphospholipid syndrome. J Am Acad Dermatol. 2003;49:768-9. [Crossref] 
  8. Freitas P, Carvalho D. Lipodystrophy: beyond generalization? Panminerva Med. 2013;55: 253-68. [PubMed] 
  9. Kim CA, Delepine M, Boutet E, et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab. 2008;93:1129-34. [Crossref]  [PubMed] 
  10. Hayashi YK, Matsuda C, Ogawa M, et al. Human PTRF mutations cause secondary deficiency of caveolin resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009;119:2623-33. [Crossref]  [PubMed] 
  11. Subramanyam L, Simha V, Garg A. Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. Clin Genet. 2010;78:66-73. [Crossref]  [PubMed]  [PMC] 
  12. Hegele RA, Cao H, Liu DM, et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Human Genet. 2006;79: 383-9. [Crossref]  [PubMed]  [PMC] 
  13. Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Medicine (Baltimore). 2004;83:18-34. [Crossref]  [PubMed] 
  14. Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. J Hum Genet. 2013;59:16-23. [Crossref]  [PubMed] 
  15. Mathieson PW, Wurzner R, Oliveria DB, et al. Complement mediated adipocyte lysis by nephritic factor sera. J Exp Med. 1993;177: 1827-31. [Crossref]  [PubMed] 
  16. Corvillo F, Aparicio V, Garrido S, et al. Complement pro?le and autoantibodies against adipocytes on acquired lipodystrophies. Abstracts/Molecular Immunology. 2017;89:115-20. [Crossref] 
  17. Matthai SM, Jacob S, Palak R, et al. Crescentic C3 glomerulopathy with acquired partial lipodystrophy: an unusual cause of rapidly progressive renal failure. Indian J Pathol Microbiol. 2017;60:290-1. [Crossref]  [PubMed] 
  18. Heidemann LN, Thomsen JB, Sorensen JA. Barraquer-Simons syndrome: a unique patient's perspective on diagnosis, disease progression and recontouring treatment. BMJ Case Rep. 2016;2016. pii: bcr2016216134.
  19. Santos M, Rabelo R, Vilasboas V, et al. Do you know this syndrome? An Bras Dermatol. 2011;86:391-400. [Crossref]  [PubMed]