A Rare Pathological Revelation: Muir-Torre Syndrome

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Makineni Karthik Sai, Sadanala Lakshmi Lavanya, Kadari Manichander Patel and Ananya Bengeri

Abstract

Muir-torre syndrome (MTS) is an autosomal dominant phenotypic variant of hereditary non-polyposis colorectal cancer (HNPCC), which is also known as lynch syndrome (LS). It is caused by mutations in DNA mismatch repair genes which result in microsatellite instability. The hallmark features of MTS are sebaceous neoplasms of the skin and visceral malignancies with colonic carcinoma being the most common. The association of mismatch repair gene mutations and visceral malignancies warrants earlier and more frequent screening for malignancy. This activity describes the pathophysiology, etiology, and presentation of MTS and highlights the role of the interprofessional team in its management. We report a 55-year-old man who is diagnosed with sebaceous cyst for 3 years and underwent an excision of cyst whose pathology revealed a sebaceous carcinoma.

Published on: October 30, 2024
doi: 10.17756/micr.2024-109

Citation:  Sai MK, Lavanya SL, Patel KM, Bangeri A. 2024. A Rare Pathological Revelation: Muir- Torre Syndrome. J Med Imaging Case Rep 8(2): 43-45.

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