Alagille syndrome: A rare cause for xanthomatosis

N. Jose, M. Zacharia, P. L. Jayalakshmy, K. Sobhanakumari
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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.
Alagille综合征:一种罕见的黄瘤病病因
阿拉吉尔综合征(Alagille syndrome, ALGS)是一种罕见的常染色体显性遗传病,以典型的面部特征、胆汁淤积性黄疸以及肾脏、心脏、眼睛和脊椎异常为特征。胆汁淤积症可在儿童时期导致多发性黄疸。我们报告这个病例是为了强调与ALGS相关的皮肤特征和脂质异常。我们强调对多发性黄瘤患者进行详细评估的重要性,特别是儿童,因为它可能揭示潜在的严重系统性累及。
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