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 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.
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 Vale
PV
Machado
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.
Egon Luiz Rodrigues
EL
Daxbacher
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.
Daniel Lago
DL
Obadia
Pedro Ernesto University Hospital, Rio de Janeiro State University, Rio de JaneiroRJ, Brazil, Professor of Pediatrics, Pedro Ernesto University Hospital - Rio de Janeiro State University (HUPE-UERJ) - Rio de Janeiro (RJ), Brazil.
Edna Ferreira da
EF
Cunha
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.
Maria de Fátima Guimarães Scotelaro
Mde F
Alves
Lagoa Federal Hospital, Rio de JaneiroRJ, Brazil, Specialist in Dermatology. Doctor in general medicine at the Lagoa Federal Hospital- Rio de Janeiro (RJ), Brazil.
Danielle
D
Mann
D000293:Adolescent; D003923:Diabetes Mellitus, Lipoatrophic / Q000473:pathology; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000473:pathology; D007333:Insulin Resistance; D052497:Lipodystrophy, Congenital Generalized / Q000473:pathology*; D012867:Skin / Q000473:pathology; D014973:Xanthomatosis / Q000473:pathology*