N. Jose, M. Zacharia, P. L. Jayalakshmy, K. Sobhanakumari
{"title":"Alagille综合征:一种罕见的黄瘤病病因","authors":"N. Jose, M. Zacharia, P. L. Jayalakshmy, K. Sobhanakumari","doi":"10.25259/jsstd_1_2022","DOIUrl":null,"url":null,"abstract":"Alagille syndrome (ALGS) is a rare, autosomal dominant disorder characterized by typical facial features, cholestatic jaundice, and renal, cardiac, eye, and vertebral anomalies. Cholestasis can lead to multiple xanthomas in childhood. We report this case to emphasize the cutaneous features and the lipid abnormalities associated with ALGS. We highlight the importance of a detailed evaluation in patients with multiple xanthomas, especially children, as it may reveal an underlying serious systemic involvement.","PeriodicalId":17051,"journal":{"name":"Journal of Skin and Sexually Transmitted Diseases","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Alagille syndrome: A rare cause for xanthomatosis\",\"authors\":\"N. Jose, M. Zacharia, P. L. Jayalakshmy, K. Sobhanakumari\",\"doi\":\"10.25259/jsstd_1_2022\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Alagille syndrome (ALGS) is a rare, autosomal dominant disorder characterized by typical facial features, cholestatic jaundice, and renal, cardiac, eye, and vertebral anomalies. Cholestasis can lead to multiple xanthomas in childhood. We report this case to emphasize the cutaneous features and the lipid abnormalities associated with ALGS. We highlight the importance of a detailed evaluation in patients with multiple xanthomas, especially children, as it may reveal an underlying serious systemic involvement.\",\"PeriodicalId\":17051,\"journal\":{\"name\":\"Journal of Skin and Sexually Transmitted Diseases\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-05-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Skin and Sexually Transmitted Diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25259/jsstd_1_2022\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Skin and Sexually Transmitted Diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/jsstd_1_2022","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Alagille syndrome (ALGS) is a rare, autosomal dominant disorder characterized by typical facial features, cholestatic jaundice, and renal, cardiac, eye, and vertebral anomalies. Cholestasis can lead to multiple xanthomas in childhood. We report this case to emphasize the cutaneous features and the lipid abnormalities associated with ALGS. We highlight the importance of a detailed evaluation in patients with multiple xanthomas, especially children, as it may reveal an underlying serious systemic involvement.