Berardinelli-Seip Syndrome - A Case Report

• Main Authors: Kazandjieva Jana, Guleva Dimitrina, Márina Sonya, Nikolova Assya, Mladenova Gergana, Kurtev Alexander
• Format: Article
• Language: English
• Published: Sciendo 2016-06-01
• Series: Serbian Journal of Dermatology and Venereology
• Subjects: lipodystrophy, congenital generalized; acanthosis nigricans; masculinity; hypertrichosis; signs and symptoms; case reports
• Online Access: https://doi.org/10.1515/sjdv-2016-0010

Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome (BSS), is a rare autosomal recessive disease characterized by near total absence of adipose tissue and muscular hypertrophy. Additional common clinical signs are acanthosis nigricans, acromegaloid features, hepatomegaly, hyperandrogenism, altered glucose intolerance, cardiomyopathy and hypertriglyceridemia. An 11-year-old girl was admitted to our Clinic presenting with hyperandrogenic features, generalized lack of adipose tissue, generalized muscular hypertrophy and brownish colored skin on the neck, axillas and inguinal folds associated with impaired glucose tolerance and hypertension. A clinical diagnosis of congenital generalized lipodystrophy was made.