Muir-Torre Syndrome

Adam J. Luber, Joshua A. Zeichner

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Scopus citations


Muir-Torre syndrome (MTS) is a rare, autosomal dominant genodermatosis characterized by sebaceous neoplasms, keratoacanthomas, and visceral malignancies [1,2]. MTS is a phenotypic subset of hereditary nonpolyposis colorectal cancer (HNPCC) caused by mutations in mismatch repair genes associated with microsatellite instability [3]. Due to the increased risk in developing visceral malignancies, it is important that the proper diagnosis to be made as early as possible and family members be evaluated for MTS and its associated cancers. MTS was first described separately by Muir [4] and Torre [5] in 1967 and 1968, respectively. Muir first reported a patient with a sebaceous adenoma, multiple keratoacanthomas of the face, and multiple carcinomas of the gastrointestinal tract [4]. Torre described a case of multiple sebaceous neoplasms in a patient with a history of two gastrointestinal malignancies [5]. The combined name of the syndrome was created in 1982 when Fahmy et al. reported 20 cases with a similar constellation of findings [6].

Original languageEnglish
Title of host publicationAcneiform Eruptions in Dermatology
Subtitle of host publicationA Differential Diagnosis
PublisherSpringer New York
Number of pages5
ISBN (Electronic)9781461483441
ISBN (Print)9781461483434
StatePublished - 1 Jan 2014


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