In 1967, Muir and Torre each reported patients with multiple cutaneous tumors along with visceral malignancies. Muir-Torre syndrome (MTS) is the combination of neoplasms of the skin (usually sebaceous adenoma, sebaceous epithelioma, or sebaceous carcinoma but also keratoacanthoma) and a visceral malignancy (usually colorectal, endometrial, small intestine, and urothelial). 
MTS has an autosomal dominant pattern of inheritance in 59% of cases and has a high degree of penetrance and variable expression.
Muir-Torre syndrome (MTS) is considered to be a subtype of HNPCC. [2, 3] This condition is associated with an inherited defect in one copy of a DNA mismatch repair gene (MMR), which leads to microsatellite instability.  The 2 major MMR proteins involved are hMLH1 and hMSH2. Approximately 70% of tumors associated with the MTS have microsatellite instability. While germline disruption of hMLH1 and hMSH2 is evenly distributed in HNPCC, disruption of hMSH2 is seen in greater than 90% of MTS patients.  Two other proteins involved in MTS are MSH6 and PMS2.
See Pathophysiology. The main anomaly detected in Muir-Torre syndrome (MTS) patients is the alteration in the mismatch repair genes, particularly MSH2 on chromosome 2 and MLH1 on chromosome 3.  Other genes are MSH-6, MLH-3, and PMS-2.  Loss of 2 of the retinoid receptors (RXR-beta and RXR-gamma) seems apparent in sebaceous carcinoma. 
Muir-Torre syndrome (MTS) is a rare disorder,  with approximately 200 patients reported. Families with MTS are probably more common than reported.
MTS occurs in both sexes, with a male-to-female ratio of 3:2.
The patient’s age at presentation of MTS ranges from young adulthood to elderly patients, with a median age of 53 years. 
Sebaceous carcinoma is an aggressive neoplasm, which can recur locally after excision and can metastasize. When local recurrences develop, they usually do so within the first five years of excision. Recurrence rates are estimated to be around 30% range. 
Relatives of patients should receive genetic counseling.
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Victor G Prieto, MD, PhD Ferenc and Phyllis Gyorkey Chair for Research and Education in Pathology, Professor, Departments of Pathology and Dermatology, University of Texas MD Anderson Cancer Center
Victor G Prieto, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Medical Association, American Society for Clinical Pathology, American Society of Dermatopathology, College of American Pathologists, European Society of Pathology, International Society of Dermatopathology, Society for Investigative Dermatology, United States and Canadian Academy of Pathology
Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Myriad (consultant regarding MyPath test in melanocytic lesions).
Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Received salary from Medscape for employment. for: Medscape.
Warren R Heymann, MD Head, Division of Dermatology, Professor, Department of Internal Medicine, Rutgers New Jersey Medical School
Disclosure: Nothing to disclose.
Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.
Joshua A Zeichner, MD Assistant Professor, Director of Cosmetic and Clinical Research, Mount Sinai School of Medicine; Chief of Dermatology, Institute for Family Health at North General
Disclosure: Received consulting fee from Valeant for consulting; Received grant/research funds from Medicis for other; Received consulting fee from Galderma for consulting; Received consulting fee from Promius for consulting; Received consulting fee from Pharmaderm for consulting; Received consulting fee from Onset for consulting.
The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Marcelo G. Horenstein, MD, to the development and writing of this article.
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