Do you know this syndrome? Berardinelli-Seip syndrome

Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest g...

Full description

Saved in:
Bibliographic Details
Published in:Anais brasileiros de dermatología 2013-11, Vol.88 (6), p.1011-1013
Main Authors: Machado, Pedro Vale, Daxbacher, Egon Luiz Rodrigues, Obadia, Daniel Lago, Cunha, Edna Ferreira da, Alves, Maria de Fátima Guimarães Scotelaro, Mann, Danielle
Format: Article
Language:English
Subjects:
Adolescent
Diabetes Mellitus, Lipoatrophic - pathology
Female
Humans
Hypertriglyceridemia - pathology
Insulin Resistance
Lipodystrophy, Congenital Generalized - pathology
Skin - pathology
Xanthomatosis - pathology
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, patients manifest generalized lipoatrophy at birth or until 2 years of age, and in adolescence usually develop marked insulin resistance with rapid progression to diabetes and dyslipidemia. We report the case of a 17-year-old Berardinelli-Seip syndrome patient with eruptive xanthoma associated with severe hypertriglyceridemia. It is worth noting Eruptive xanthoma as a dermatological manifestation that is not generally highlighted in the reports of cases of this genetic metabolic disorder.
ISSN:1806-4841
DOI:10.1590/abd1806-4841.20132178