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Muir-Torre syndrome is an autosomal dominant hereditary condition predisposing to cancer. It is characterized by cutaneous tumors (such as sebaceous adenomas, epitheliomas, or carcinoma, and/or keratoacanthomas) and internal malignancies. A 47-year-old male patient with cancer antecedents consulted for two tumors of the eyelid. Histological study of the exeresis biopsies of the eyelid lesions showed a sebaceous adenoma and an epidermoid carcinoma with sebaceous differentiation. With the suspicion of Muir-Torre syndrome, a genetic consultation was requested. The geneticist found a mutation of the MSH2 gene, which was not classified as pathological. Cancer screening was begun for the patient and his descendants. The clinical outcome was death from urothelial carcinoma. Eyelid sebaceous tumors require complete medical check-up in search of carcinoma. Demonstrating Muir-Torre syndrome allows the medical team to propose early cutaneous and visceral carcinoma screening for patients, their collaterals, and their descendants.
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| http://dx.doi.org/10.1016/s0181-5512(06)73827-x | DOI Listing |
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