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 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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Sociedade Brasileira de Dermatologia
2013
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| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000601011 |
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oai:scielo:S0365-059620130006010112014-08-29Do you know this syndrome?Machado,Pedro ValeDaxbacher,Egon Luiz RodriguesObadia,Daniel LagoCunha,Edna Ferreira daAlves,Maria de Fátima Guimarães ScotelaroMann,Danielle Acanthosis nigricans Diabetes mellitus Dyslipidemias Lipodystrophy, congenital generalized Xanthomatosis 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.info:eu-repo/semantics/openAccessSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia v.88 n.6 20132013-12-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000601011en10.1590/abd1806-4841.20132178 |
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Machado,Pedro Vale Daxbacher,Egon Luiz Rodrigues Obadia,Daniel Lago Cunha,Edna Ferreira da Alves,Maria de Fátima Guimarães Scotelaro Mann,Danielle |
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Machado,Pedro Vale Daxbacher,Egon Luiz Rodrigues Obadia,Daniel Lago Cunha,Edna Ferreira da Alves,Maria de Fátima Guimarães Scotelaro Mann,Danielle Do you know this syndrome? |
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Machado,Pedro Vale Daxbacher,Egon Luiz Rodrigues Obadia,Daniel Lago Cunha,Edna Ferreira da Alves,Maria de Fátima Guimarães Scotelaro Mann,Danielle |
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Machado,Pedro Vale |
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Do you know this syndrome? |
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Do you know this syndrome? |
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Do you know this syndrome? |
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Do you know this syndrome? |
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do you know this syndrome? |
| 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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Sociedade Brasileira de Dermatologia |
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2013 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000601011 |
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