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Do you know this 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...

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Autores principales: Machado, Pedro Vale, Daxbacher, Egon Luiz Rodrigues, Obadia, Daniel Lago, da Cunha, Edna Ferreira, Alves, Maria de Fátima Guimarães Scotelaro, Mann, Danielle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900363/
https://www.ncbi.nlm.nih.gov/pubmed/24474121
http://dx.doi.org/10.1590/abd1806-4841.20132178
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author Machado, Pedro Vale
Daxbacher, Egon Luiz Rodrigues
Obadia, Daniel Lago
da Cunha, Edna Ferreira
Alves, Maria de Fátima Guimarães Scotelaro
Mann, Danielle
author_facet Machado, Pedro Vale
Daxbacher, Egon Luiz Rodrigues
Obadia, Daniel Lago
da Cunha, Edna Ferreira
Alves, Maria de Fátima Guimarães Scotelaro
Mann, Danielle
author_sort Machado, Pedro Vale
collection PubMed
description 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.
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spelling pubmed-39003632014-01-29 Do you know this syndrome? Machado, Pedro Vale Daxbacher, Egon Luiz Rodrigues Obadia, Daniel Lago da Cunha, Edna Ferreira Alves, Maria de Fátima Guimarães Scotelaro Mann, Danielle An Bras Dermatol Syndrome In Question 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. Sociedade Brasileira de Dermatologia 2013 /pmc/articles/PMC3900363/ /pubmed/24474121 http://dx.doi.org/10.1590/abd1806-4841.20132178 Text en http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Syndrome In Question
Machado, Pedro Vale
Daxbacher, Egon Luiz Rodrigues
Obadia, Daniel Lago
da Cunha, Edna Ferreira
Alves, Maria de Fátima Guimarães Scotelaro
Mann, Danielle
Do you know this syndrome?
title Do you know this syndrome?
title_full Do you know this syndrome?
title_fullStr Do you know this syndrome?
title_full_unstemmed Do you know this syndrome?
title_short Do you know this syndrome?
title_sort do you know this syndrome?
topic Syndrome In Question
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900363/
https://www.ncbi.nlm.nih.gov/pubmed/24474121
http://dx.doi.org/10.1590/abd1806-4841.20132178
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