A case report of Muir–Torre syndrome (MTS) in a Chinese patient

This case report describes a rare occurrence of Muir-Torre syndrome (MTS) diagnosed in a patient who presented with a keratoacanthoma of the eyelid and subsequently developed rectal carcinoma. The diagnosis was confirmed through comprehensive clinical evaluation and molecular analysis demonstrating microsatellite instability, consistent with the diagnostic criteria for MTS.

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Publication Details

Journal
BMC Ophthalmology
Published
2025-04-17
DOI
https://doi.org/10.1186/s12886-025-04044-5
Citations
1
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
1.47

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article

A case report of Muir–Torre syndrome (MTS) in a Chinese patient

Xin Qi, Kunning Zhang, Jing Wang, Wei Zhang
1 citations
BMC Ophthalmology
Genetic factors in colorectal cancer
1.47
article

A case report of Muir–Torre syndrome (MTS) in a Chinese patient

Xin Qi, Kunning Zhang, Jing Wang, Wei Zhang
article en
1 citations

Abstract

This case report describes a rare occurrence of Muir-Torre syndrome (MTS) diagnosed in a patient who presented with a keratoacanthoma of the eyelid and subsequently developed rectal carcinoma. The diagnosis was confirmed through comprehensive clinical evaluation and molecular analysis demonstrating microsatellite instability, consistent with the diagnostic criteria for MTS.

BMC OphthalmologyVol. 25(1)
Beijing Chao-Yang Hospital, Capital Medical University (CN)
Capital Medical University
Openalex Percentile: Top 21%
Genetic factors in colorectal cancer
1.47
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