--- 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' altloc: - http://www.ojhas.org/issue36/2010-4-28.htm chapter: ~ commentary: ~ commref: ~ confdates: ~ conference: ~ confloc: ~ contact_email: ~ creators_id: - dal.sameer@gmail.com - ~ creators_name: - family: Dal given: Sameer I honourific: '' lineage: '' - family: Patel given: Hitesh honourific: '' lineage: '' date: 2011-01-20 date_type: published datestamp: 2011-05-02 17:15:04 department: ~ dir: disk0/00/00/72/75 edit_lock_since: ~ edit_lock_until: 0 edit_lock_user: ~ editors_id: - BS Kakkilaya editors_name: - family: Kakkilaya given: Srinivas honourific: Dr lineage: '' eprint_status: archive eprintid: 7275 fileinfo: /style/images/fileicons/application_pdf.png;/7275/1/2010%2D4%2D28.pdf full_text_status: public importid: ~ institution: ~ isbn: ~ ispublished: pub issn: ~ item_issues_comment: [] item_issues_count: 0 item_issues_description: [] item_issues_id: [] item_issues_reported_by: [] item_issues_resolved_by: [] item_issues_status: [] item_issues_timestamp: [] item_issues_type: [] keywords: Berardinelli-Siep syndrome; Lipodystrophy lastmod: 2011-05-02 17:15:04 latitude: ~ longitude: ~ metadata_visibility: show note: ~ number: 4 pagerange: ~ pubdom: TRUE publication: Online Journal of Health and Allied Sciences publisher: BS Kakkilaya refereed: TRUE referencetext: "1.\tGarg A. Lipodystrophies. Am J Med 2000;108:143.\r\n2.\tJanaki VR, Premlatha S, Rao NR, Thambiah AS. Lawrence Seip syndrome. Br J Dermatol 1980;103(6):693-696.\r\n3.\tGarg 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.\r\n4.\tMagre 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.\r\n5.\tVan Maldergem L, Magre J, Khallouf E et al. Genotype phenotype relationships in Berardinelli Seip congenital lipodystrophy. J Med Genet 2002;39(10):722-733.\r\n6.\tBhayana S, Hegele RA. The molecular basis of genetic lipodystrophies. Clin Biochem 2002;35(3):171-177.\r\n7.\tSchwartz RA. Acanthosis nigricans. J Am Acad Dermatol 1994;31(1):1-19.\r\n8.\tMork 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.\r\n9.\tSeip M, Trygstad O. Generalised lipodystrophy, congenital and acquired. Acta Paediatr Suppl 1996;413:2-28." relation_type: [] relation_uri: [] reportno: ~ rev_number: 18 series: ~ source: ~ status_changed: 2011-05-02 17:15:04 subjects: - OJHAS succeeds: ~ suggestions: ~ sword_depositor: ~ sword_slug: ~ thesistype: ~ title: Berardinelli-Seip Syndrome type: journale userid: 4338 volume: 9