Muir-Torre Syndrome: A Rare Case Report and Review of Literature

穆尔-托雷综合征:一例罕见病例报告及文献综述

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Abstract

Muir-Torre syndrome (MTS) is an uncommon autosomal dominant disorder characterized by germline mutations in DNA mismatch repair (MMR) genes, resulting in microsatellite instability (MSI). It is regarded as a variant form of Lynch syndrome, characterized by the co-occurrence of at least one cutaneous sebaceous neoplasm and at least one visceral malignancy. Furthermore, studies have indicated that MTS may manifest in transplant recipients and in immunocompromised patients. The diagnosis and management of such cases necessitate a multidisciplinary approach. Here, we report a case of a Chinese patient with a history of rectal cancer who developed multiple sebaceous adenomas during immunosuppressive therapy six years after renal transplantation. This case report not only provides additional evidence for the inducing effect of immunosuppressants on MTS but also emphasizes the importance of a thorough diagnosis of MTS and the significance of preventing the development of potential skin tumors in patients with MTS.

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