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- W2912472272 abstract "Abstract Muir Torre syndrome is an autosomal dominant disorder characterised by germline mutations in mismatch repair genes involved in DNA repair, leading to microsatellite instability and a propensity to tumour formation. We report a case of a 67‐year‐old gentleman who underwent biopsy of a smooth nodular lesion on the nasal tip, histopathologically consistent with sebaceous adenoma. Immunohistochemistry suggested a loss of MSH 6. Subsequent colonoscopy identified a poorly differentiated adenocarcinoma, with loss of staining for MSH 6 and a germline mutation identified on genetic analysis. These findings were consistent with a diagnosis of Muir Torre syndrome. Whilst there is controversy in the literature regarding universal screening for Muir Torre syndrome, the early detection of visceral neoplasms is crucial. The authors strongly support screening for Muir Torre syndrome (with patient consent) upon discovery of a cutaneous sebaceous neoplasm, even in the absence of a personal or family history of visceral malignancy." @default.
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- W2912472272 date "2019-01-22" @default.
- W2912472272 modified "2023-09-27" @default.
- W2912472272 title "Multiple benign adnexal tumours: Anything but benign" @default.
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- W2912472272 doi "https://doi.org/10.1111/ajd.12989" @default.
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