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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Dermatologia
2013
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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. |
format | Online Article Text |
id | pubmed-3900363 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
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?
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title_full | Do you know this syndrome?
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title_fullStr | Do you know this syndrome?
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title_full_unstemmed | Do you know this syndrome?
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title_short | Do you know this syndrome?
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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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