Cerebrotendinous Xanthomatosis Presenting with Bilateral Achilles Tendon Xanthomata

Abstract

Xanthomas are described as deposits in the skin and subcutaneous tissues. Mostly known as pseudotumors, xanthomas consist of connective tissue containing mainly cholesterol, triglycerides, and numerous foamy macrophages. Bilateral Achilles tendon xanthomata is pathognomonic for cerebrotendinous xanthomatosis in the case of normal cholesterol levels but increased cholestanol levels in serum. In this article, we present findings regarding bilateral xanthomas of Achilles tendons in a patient with cerebrotendinous xanthomatosis. (J Am Podiatr Med Assoc 103(2): 152–155, 2013)