Muir-Torre syndrome (MTS) is a rare autosomal dominantly inherited disease, subtype of Lynch syndrome II, caused by DNA mismatch repair proteins.1 It is characterized by the association of tumors of the sebaceous glands and/or multiple keratoacanthomas and visceral neoplasia. We report the first case, to our knowledge, of MTS associated with sebaceous carcinoma of the upper eyelid, adrenocortical adenoma, and carcinoma of the colon. We highlight the important role of the ophthalmologist in the potential early diagnosis of MTS in patients presenting with conjunctivocutaneous sebaceous adenomas. Correct and early diagnosis may save the life of a patient with MTS. Prognosis depends on the management of colorectal disease.
Gauthier A, Campolmi N, Tumahai P, Kantelip B, Delbosc B. Sebaceous Carcinoma of the Eyelid and Muir-Torre Syndrome. JAMA Ophthalmol. 2014;132(8):1025–1028. doi:10.1001/jamaophthalmol.2014.1026