Machado Pedro Vale, Daxbacher Egon Luiz Rodrigues, Obadia Daniel Lago, Cunha Edna Ferreira da, Alves Maria de Fátima Guimarães Scotelaro, Mann Danielle
Pedro Ernesto University Hospital, Rio de Janeiro State University, Rio de JaneiroRJ, Brazil, Specialist in Dermatology. Postgraduate degree in Dermatology from the Pedro Ernesto University Hospital - Rio de Janeiro State University (HUPE-UERJ) - Rio de Janeiro (RJ), Brazil.
Pedro Ernesto University Hospital, Rio de Janeiro State University, Rio de JaneiroRJ, Brazil, Preceptor of Dermatology, Pedro Ernesto University Hospital - Rio de Janeiro State University (HUPE-UERJ) - Rio de Janeiro (RJ), Brazil.
An Bras Dermatol. 2013 Nov-Dec;88(6):1011-3. doi: 10.1590/abd1806-4841.20132178.
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.
贝拉尔迪内利-塞普综合征是一种罕见的常染色体隐性疾病，其特征是脂肪细胞中脂质代谢不足且储存效率低下，导致脂肪在肝脏、脾脏、胰腺、心脏、动脉内皮和皮肤等器官中蓄积。典型情况下，患者在出生时或2岁之前表现为全身性脂肪萎缩，在青春期通常会出现明显的胰岛素抵抗，并迅速发展为糖尿病和血脂异常。我们报告了一例17岁的贝拉尔迪内利-塞普综合征患者，该患者伴有爆发性黄瘤和严重的高甘油三酯血症。值得注意的是，爆发性黄瘤作为一种皮肤表现，在这种遗传代谢紊乱病例的报告中通常未被重点提及。
