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Article

Unique Variant of Cerebrotendinous Xanthomatosis Presenting With Eyelid Involvement Due to Heterozygous CYP7A1 and SLC10A1 Gene Mutations.

The American Journal of dermatopathology - 1 Apr 2021

Krbanjevic Aleksandar, Lekakh Olga, Kadkol Shrihari, Mohapatra Gayatry, Gushchin Anna

Abstract excerpt

ABSTRACT: We report a case of a novel phenotypic variant of cerebrotendinous xanthomatosis (CTX) with an adult onset, caused by 2 coexisting mutations involving the CYP7A1 and SLC10A1 genes. A 49-year-old male patient presented with eyelid xanthomatosis associated with dermatochalasis, nystagmus, right-sided paresis with hyperreflexia and atypical parkinsonism. Bilateral xanthomatous plaques involving both...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33298707
DOI: 10.1097/DAD.0000000000001858

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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