JAAD Case Rep. 2020 Oct 16;6(12):1205-1207. doi: 10.1016/j.jdcr.2020.10.012. eCollection 2020 Dec.

PMID: 33294542

Katharine Saussy, Neelesh Jain, Andrea Murina

Highlights: In this article, three cases of cerebrotendinous xanthomatosis with similar clinical symptoms are presented to demonstrate the necessity of early diagnosis.

Abstract

Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disorder that affects the production of bile acids. Mutations in the CYP27A1 gene cause a malfunctioning sterol 27-hydroxylase, resulting in lipid metabolism problems and the accumulation of cholestanol and cholesterol in the form of xanthomas in the central nervous system, eyes, and tendons.

Objective: With roughly 300 cases reported worldwide, the incidence is as high as 5 per 100,000 people of European ancestry. While signs and symptoms often appear early in life, most people are diagnosed in their forties, when their condition has developed to an advanced stage. To illustrate the need of early identification, three cases were reported in this article who had CTX with similar clinical symptoms.

Keywords: CTX, cerebrotendinous xanthomatosis; cataracts; cerebrotendinous xanthoma; genodermatosis; xanthomatosis.