医学
轨道(动力学)
眉毛
磁共振成像
活检
皮肤病科
病理
外科
放射科
工程类
航空航天工程
作者
Linda Okafor,Jeremy D. Bowyer,Caroline Thaung,Elaine Murphy,David H. Verity
出处
期刊:Orbit
[Informa]
日期:2020-09-17
卷期号:41 (1): 118-122
标识
DOI:10.1080/01676830.2020.1820534
摘要
Sitosterolemia is a rare inherited condition in which plant sterols are stored and deposited in the tissues. Described in 1974 by Battacharyya and Connor, it is characterized by tendon and tuberous xanthomas and a propensity to premature coronary atherosclerosis. We present the first reported case of the disease being manifest in the periorbital region. A 44-year-old man presented with a six-month history of swelling below the left eyebrow overlying the orbital rim, but without displacement of the globe. Magnetic resonance imaging identified a soft tissue mass within the orbit, with subsequent biopsy confirming a xanthogranulomatous process consistent with the diagnosis of sitosterolemia. Management of sitosterolemia aims to reduce plasma plant sterol concentrations which subsequently lowers serum cholesterol reducing the xanthomas and atherosclerotic cardiovascular diseases. This report highlights a rare, under-recognised condition (and indeed the first reporting periocular disease), and the potential dangers if misdiagnosed as hypercholesterolemia.
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