At least a single sebaceous gland tumor (either an adenoma, an epithelioma, or a carcinoma)
A minimum of one internal malignancy
The Amsterdam criteria are frequently used to diagnose Lynch syndrome and Muir–Torre syndrome. They include the following:
3 or more relatives with an HNPCC-associated cancer (i.e., colorectal, cancer of the endometrium, small bowel, ureter, or renal pelvis)
2 or more successive generations affected by cancer
1 or more persons with cancer is a first-degree relative of the other 2, at least 1 case of colorectal cancer younger than age 50 years, a diagnosis of familial adenomatous polyposis has been excluded, tumors are verified by histologic examination
Muir-Torre Syndrome is a genetic condition. Mutations in MLH1 and MSH2 are linked with the disease. These genes code for DNA mismatch repair genes, and mutations increase the risk of developing cancerous qualities.
Muir-Torre was observed to occur in 14 of 50 families (28%) and in 14 of 152 individuals (9.2%) with Lynch Syndrome, also known as HNPCC.
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.
Gastrointestinal and genitourinary cancers are the most common internal malignancies. Colorectal cancer is the commonest visceral neoplasm in Muir–Torre syndrome patients.
Immunohistochemistry is now being used more often to diagnose patients likely to have Muir-Torre. Sebaceous neoplasms are only infrequently encountered, and immunohistochemistry is reliable and readily available, so researchers have recommended its use. Routine immunohistochemical detection of DNA mismatch repair proteins help identify hereditary DNA mismatch repair deficiency.
Treatment of Muir-Torre normally consists of oral isotretinoin. The drug has been found to prevent tumor development.
A couple studies have been conducted on patients with both Muir-Torre Syndrome and Turcot Syndrome. It is thought that the two may have some genetic overlap. Both have been associated defects in MLH1 and MSH2 genes.
In one study, a patient with defective MSH2 and MSH6 mismatch repair genes exhibited both syndromes. This is the first case where a patient with genotypic changes consistent with HNPCC has been properly diagnosed with an overlap of both syndromes. Along with neoplasms of the sebaceous gland, this patient developed cerebral neoplasms, characteristic of Turcot Syndrome.
^James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN0-7216-2921-0.
^Cohen PR, Kohn R, Kurzrock R. (May 1991). "Association of sebaceous gland tumors and internal malignancy: The muir-torre syndrome". The American Journal of Medicine90 (5): 606–13. doi:10.1016/S0002-9343(05)80013-0. PMID2029018.
^South CD, Hampel H, Comeas I, Westman JA, Frankel WL, Chapelle A. (February 2008). "The Frequency of Muir-Torre Syndrome Among Lynch Syndrom Families". Oxford Journal100 (4): 277–81. doi:10.1093/jnci/djm291. PMID18270343.
^Ponti G, Losi L, Pedroni M. (October 2006). "Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. |". J Invest Dermatol126 (10): 2302–7. doi:10.1038/sj.jid.5700475. PMID16826164.
^Okan G, Vural P, Ince U, Yazar A, Uras C, Saruc M. (August 2012). "Muir-Torre syndrome: a case report and review of the literature". Turk J Gastroenterol23 (4): 394–8. PMID22965514.
^Orta L, Klimstra DS, Qin J et al. (2009). "Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristics". Am J Surg Pathol33 (6): 934–44. doi:10.1097/PAS.0b013e318199edca. PMID19342947.
^Graefe T, Wollina U, Schulz H, Burgdorf W. (March 2000). "Muir-Torre Syndrome – Treatment with Isotretinoin and Interferon Alpha-2a Can Prevent Tumour Development". Dermatology200 (4): 331–3. doi:10.1159/000018399. PMID10894967.
^Muir EG, Bell AJ, Barlow KA (March 1967). "Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face". Br J Surg54 (3): 191–5. doi:10.1002/bjs.1800540309. PMID6020987.