<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></abstract>

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.

Berardinelli-Seip Syndrome - A Case Report

Department of Dermatology and Venereology, Medical University of Sofia,

Specialized Hospital for Active Treatment in Pediatrics “Prof. Ivan Mitev”, Medical University of Sofia,

Serbian Journal of Dermatology and Venereology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Berardinelli-Seip Syndrome - A Case Report"}

Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome (BSS), is a rare autosomal recessive disease characterized by near total...

Berardinelli-Seip Syndrome - A Case Report

Pubblicato online: 20 mar 2017

Pagine: 101 - 104

DOI: https://doi.org/10.1515/sjdv-2016-0010

Parole chiave
Lipodystrophy, Congenital Generalized, Acanthosis Nigricans, Masculinity, Hypertrichosis, Signs and Symptoms, Case Reports

© 2016 Jana Kazandjieva et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Berardinelli-Seip Syndrome - A Case Report

Pubblicato online: 20 mar 2017

Pagine: 101 - 104

DOI: https://doi.org/10.1515/sjdv-2016-0010

Parole chiaveLipodystrophy, Congenital Generalized, Acanthosis Nigricans, Masculinity, Hypertrichosis, Signs and Symptoms, Case Reports

© 2016 Jana Kazandjieva et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
Lipodystrophy, Congenital Generalized, Acanthosis Nigricans, Masculinity, Hypertrichosis, Signs and Symptoms, Case Reports