Skip to main content
Article thumbnail
Location of Repository

Berardinelli-Seip Syndrome

By Sameer I Dal and Hitesh Patel

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 fertilit

Topics: Online Journal of Health and Allied Sciences
Publisher: BS Kakkilaya
Year: 2011
OAI identifier: oai:cogprints.org:7275
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • http://cogprints.org/7275/1/20... (external link)
  • http://cogprints.org/7275/ (external link)
  • Suggested articles

    Citations

    1. (1999). A gene for congenital generalized lipodystrophy maps to chromosome 9q34.
    2. (1994). Acanthosis nigricans.
    3. (1996). Generalised lipodystrophy, congenital and acquired. Acta Paediatr Suppl
    4. Genotype phenotype relationships in Berardinelli Seip congenital lipodystrophy.
    5. Identification of the gene altered in Berardinelli Seip congenital lipodystrophy on chromosome 11q13.
    6. Thambiah AS. Lawrence Seip syndrome.
    7. The molecular basis of genetic lipodystrophies.
    8. (1986). Treatment of acanthosis nigricans with etretinate in a patient with generalized lipodystrophy. Acta Derm Venereol

    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.