{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T09:49:13Z","timestamp":1771062553119,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T00:00:00Z","timestamp":1468281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009158","name":"Kawasaki Medical School","doi-asserted-by":"crossref","award":["26-038"],"award-info":[{"award-number":["26-038"]}],"id":[{"id":"10.13039\/501100009158","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100009158","name":"Kawasaki Medical School","doi-asserted-by":"crossref","award":["27-059"],"award-info":[{"award-number":["27-059"]}],"id":[{"id":"10.13039\/501100009158","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sitosterolemia is a very rare autosomal recessive lipoprotein metabolic disorder caused by homozygous or compound heterozygous mutations in one of the two adenosine triphosphate\u2010binding cassette transporter genes, <jats:italic><jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>5<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>8<\/jats:italic>. Sitosterolemia is clinically characterized by xanthomas and atherosclerosis, arthritis, fever, hemolysis and macrothrombocytopenia even in early childhood. We described a 16\u2010month\u2010old girl, who had numerous yellowish\u2010brown intertriginous xanthomas along the skin creases on the extremities with severe hypercholesterolemia and elevated plant sterol levels. Histopathologically, xanthoma showed aggregation of foam cells in the dermis with a zone of mucin deposits in the dermal papilla. Electron microscopy showed numerous membrane\u2010bound lipid droplets and multivesicular lipid bodies in the foam cells, a round cell containing lipid droplets in the basal cell layer and abundant mucin deposits just beneath the basal lamina. Diagnosis of sitosterolemia was confirmed by <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing showing compound heterozygosity for previously reported missense mutations in exon 9 of <jats:italic><jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>5<\/jats:italic>. Infants presenting with multiple xanthomas should be investigated for sitosterolemia, if there is no family history of dyslipidemia.<\/jats:p>","DOI":"10.1111\/1346-8138.13511","type":"journal-article","created":{"date-parts":[[2016,7,12]],"date-time":"2016-07-12T10:44:47Z","timestamp":1468320287000},"page":"1340-1344","source":"Crossref","is-referenced-by-count":8,"title":["Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia"],"prefix":"10.1111","volume":"43","author":[{"given":"Takenobu","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Department of Dermatology Kawasaki Medical School Kurashiki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junko","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kawasaki Medical School Kurashiki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumito","family":"Dateki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nagasaki University School of Medicine Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazunobu","family":"Ouchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kawasaki Medical School Kurashiki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wataru","family":"Fujimoto","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kawasaki Medical School Kurashiki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,7,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5497.1771"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107640"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2000.01817.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9126-2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3285"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.5551\/jat1994.7.33"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2008.10.010"},{"key":"e_1_2_6_9_1","first-page":"206","article-title":"Sitosterolaemia and xanthomatosis in a child","volume":"9","author":"Cheng WF","year":"2003","journal-title":"Hong Kong Med J"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M400310-JLR200"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq352"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3274"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M606339200"},{"key":"e_1_2_6_14_1","first-page":"293","article-title":"Tuberous xanthoma in homozygous type II hyperlipoproteinemia","volume":"99","author":"Bulkley BH","year":"1975","journal-title":"Arch Pathol"},{"key":"e_1_2_6_15_1","first-page":"959","article-title":"Lipid storage disease: part 1, ultrastructure of xanthoma cells in various xanthomatous diseases","volume":"33","author":"Takahashi K","year":"1983","journal-title":"Acta Patol Jpn"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.13511","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.13511","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T15:58:36Z","timestamp":1695571116000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.13511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,12]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1111\/1346-8138.13511"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.13511","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,12]]}}}