creators_name: Dal, Sameer I
creators_name: Patel, Hitesh
creators_id: dal.sameer@gmail.com
editors_name: Kakkilaya, Srinivas
editors_id: BS Kakkilaya
type: journale
datestamp: 2011-05-02 17:15:04
lastmod: 2011-05-02 17:15:04
metadata_visibility: show
title: Berardinelli-Seip Syndrome
ispublished: pub
subjects: OJHAS
full_text_status: public
keywords: Berardinelli-Siep syndrome; Lipodystrophy
abstract: We have reported two cases of Berardinelli-syndrome in a family which is a rare autosomal recessive disorder of the adipose tissue, originally described by Berardinelli and Seip, has been reported in approximately 120 patients of various ethnic origins. Assuming that only 1 in 4 patients is reported.Patients present with acanthosis nigricans (dark velvety pigmentation of the skin) in the axilla, neck or groin, severe insulin resistance, high levels of serum insulin and serum triglycerides.The other clinical features consist of enlarged hands, feet and prominent mandible (acromegaloid features), increased sweating, umbilical hernia and lytic lesions (bone appear to be eaten-up on X-rays) in long bones of the upper and lower extremities (arms, forearm, hands, thigh, calf, legs and feet) such as humerus, femur, etc. Hepatomegaly from fatty liver is almost universal and may ultimately lead to cirrhosis. Splenomegaly is common. Nearly all patients have a prominent umbilicus or frank umbilical hernia. Females present with enlarged clitoris, increased body hair, absence of or irregular menstrual cycles, and polycystic ovaries (enlarged ovaries). Only a few affected women have had successful pregnancies, whereas affected men have normal fertility
date: 2011-01-20
date_type: published
publication: Online Journal of Health and Allied Sciences
volume: 9
number: 4
publisher: BS Kakkilaya
refereed: TRUE
referencetext: 1.	Garg A. Lipodystrophies. Am J Med 2000;108:143.
2.	Janaki VR, Premlatha S, Rao NR, Thambiah AS. Lawrence Seip syndrome. Br J Dermatol 1980;103(6):693-696.
3.	Garg A, Wilson R, Barnea R et al. A gene for congenital generalized lipodystrophy maps to chromosome 9q34. J Clin Endocrinol Metab 1999;84(9):3390-3394.
4.	Magre J, Delepine M, Khallouf E et al. Identification of the gene altered in Berardinelli Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 2001;28(4):365-370.
5.	Van Maldergem L, Magre J, Khallouf E et al. Genotype phenotype relationships in Berardinelli Seip congenital lipodystrophy. J Med Genet 2002;39(10):722-733.
6.	Bhayana S, Hegele RA. The molecular basis of genetic lipodystrophies. Clin Biochem 2002;35(3):171-177.
7.	Schwartz RA. Acanthosis nigricans. J Am Acad Dermatol 1994;31(1):1-19.
8.	Mork NJ, Rajka G, Halse J. Treatment of acanthosis nigricans with etretinate in a patient with generalized lipodystrophy. Acta Derm Venereol 1986;66(2):173-174.
9.	Seip M, Trygstad O. Generalised lipodystrophy, congenital and acquired. Acta Paediatr Suppl 1996;413:2-28.
citation:   Dal, Sameer I and Patel, Hitesh  (2011) Berardinelli-Seip Syndrome.  [Journal (On-line/Unpaginated)]     
document_url: http://cogprints.org/7275/1/2010-4-28.pdf