A Case of Muir-Torre Syndrome / 대한피부과학회지

ABSTRACT

Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis first described in 1967 by Muir and in 1968 by Torre. It is characterized by the presence of at least one sebaceous gland tumor and the presence of a low-grade internal malignancy. The sebaceous neoplasia are typically adenomas, sebaceomas/sebaceous epitheliomas, or carcinomas. Most common internal malignancy is colorectal adenocarcinoma, but also neoplasia of the uterus, ovary and kidney may occur. Recent studies about genetic defect revealed MTS was caused by germline mutations in DNA mismatch repair genes and microsatellite instability. We report a case of MTS, multiple sebaceous adenomas with colorectal cancer in a 67-year-old male.