Sitosterolaemia presenting with consistent skin xanthomas in a pair of monozygotic twins who responded to ezetimibe treatment

摘要

We described for the first time, to the best of our knowledge, sitosterolaemia in monozygotic twins. They presented with almost identical skin xanthomas that responded well to treatment. Raising awareness of sitosterolaemia is crucial, as early diagnosis and treatment are imperative to prevent the associated risk of atherosclerotic heart disease.

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