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Cumulative risk of skin tumours in patients with Lynch syndrome

Lynch syndrome (LS) is an autosomal-dominant disorder characterized by a predisposition to colorectal cancer and extracolonic malignancies. LS is caused by a germline mutation in one of the four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2) or loss of expression of MSH2 due to deletion in the EPCAM gene. Muir-Torre syndrome (MTS) is considered a variant of LS, in which patients present with sebaceous neoplasms and/or keratoacanthomas. A few studies and case reports suggest a relation between LS and other benign and (pre)-malignant skin tumours. Currently only patients presenting with sebaceous carcinoma are advised to be referred to a dermatologist for surveillance. This article is protected by copyright. All rights reserved.