Muir-Torre syndrome (MTS) is an autosomal dominant condition characterized by cutaneous neoplasms in addition to internal malignancies. Cutaneous manifestations consist of recurring sebaceous adenomas and keratoacanthomas. Visceral malignancies commonly observed include those affecting the colorectal, gynecological, and urological systems. This syndrome represents a variation of the hereditary non-polyposis colorectal carcinoma syndrome (HNPCC). The fundamental genetic etiology involves heritable mutations in the mismatch repair (MMR) genes, resulting in microsatellite instability (MSI) and an elevated susceptibility to malignancy development. Herein, we present a radiological case study of a 73-year-old male patient presented with bleeding per rectum.
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Bhatt et al. (2024) studied this question.
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