{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:27:40Z","timestamp":1770902860315,"version":"3.50.1"},"reference-count":9,"publisher":"FapUNIFESP (SciELO)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["An. Bras. Dermatol."],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1590\/abd1806-4841.20132178","type":"journal-article","created":{"date-parts":[[2014,2,14]],"date-time":"2014-02-14T14:05:23Z","timestamp":1392386723000},"page":"1011-1013","source":"Crossref","is-referenced-by-count":4,"title":["Do you know this syndrome?"],"prefix":"10.1590","volume":"88","author":[{"given":"Pedro Vale","family":"Machado","sequence":"first","affiliation":[{"name":"Rio de Janeiro State University,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egon Luiz Rodrigues","family":"Daxbacher","sequence":"additional","affiliation":[{"name":"Rio de Janeiro State University,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Lago","family":"Obadia","sequence":"additional","affiliation":[{"name":"Rio de Janeiro State University,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edna Ferreira da","family":"Cunha","sequence":"additional","affiliation":[{"name":"Rio de Janeiro State University,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria de F\u00e1tima Guimar\u00e3es Scotelaro","family":"Alves","sequence":"additional","affiliation":[{"name":"Rio de Janeiro State University,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Mann","sequence":"additional","affiliation":[{"name":"Lagoa Federal Hospital,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJMra025261","article-title":"Acquired and inhereited lipodysthrofies","volume":"350","author":"Garg A","year":"2004","journal-title":"N Engl J Med"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1146\/annurev.genom.7.080505.115715","article-title":"Genetic disorders of adipose tissue development, differentiation, and death","volume":"7","author":"Agarwal AK","year":"2006","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1210\/jcem-14-2-193","article-title":"An undiagnosed endocrinometabolic syndrome: report of 2 cases","volume":"14","author":"Berardinelli W","year":"1954","journal-title":"J Clin Endocrinol Metab"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1111\/j.1651-2227.1959.tb17558.x","article-title":"Lipodystrophy and gigantismo with associated endocrinone manifestation: a new diencephalic syndrome?","volume":"48","author":"Seip M","year":"1959","journal-title":"Acta Paediatr"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1136\/adc.38.201.447","article-title":"Generalized lipodystrophy","volume":"38","author":"Seip M","year":"1963","journal-title":"Arch Dis Child"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"402","DOI":"10.4103\/0378-6323.79740","article-title":"Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case","volume":"77","author":"Khandpur S","year":"2011","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/j.bbrc.2004.12.024","article-title":"Enzimatic activity of naturally occurring 1-acylglycerol- 3-phosphate-0-acyltransferase 2 Mutants Associated with Generalized Lipodysthrophy","volume":"327","author":"Haque W","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"key":"ref8","first-page":"11","article-title":"Eruptive xanthomas","volume":"7","author":"Naik S N","year":"2001","journal-title":"Dermatol Online J"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1590\/S0365-05962006000100012","article-title":"Voc\u00ea conhece esta s\u00edndrome?","volume":"81","author":"Sousa JB","year":"2006","journal-title":"An Bras Dermatol"}],"container-title":["Anais Brasileiros de Dermatologia"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/abd\/v88n6\/0365-0596-abd-88-06-1011.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T15:00:41Z","timestamp":1747666841000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0365-05962013000601011&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0365-05962013000601011"],"URL":"https:\/\/doi.org\/10.1590\/abd1806-4841.20132178","relation":{},"ISSN":["0365-0596"],"issn-type":[{"value":"0365-0596","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}