Muir torre syndromeQ87.89

Rare, familial (autosomal-dominant inherited) and sporadic tumor syndrome (see also genodermatoses tumor-associated), characterized by:

• multiple benign and malignant skin tumors(sebaceous gland neoplasms, basal cell carcinomas, keratoacanthomas)
• and
• carcinomas of internal organs: colorectal carcinoma (49%), carcinomas of the genitourinary tract (20%); breast carcinomas (10%); myeloproliferative disorders (9%), carcinomas of the upper gastrointestinal tract (7%).

It can be assumed that Muir-Torre syndrome is a (minus) variant of"hereditary nonpolyposis colon cancer syndrome"/HNPCC/Lynch syndrome type II), in which mutations occur in the same gene.

Autosomal dominant genetic disorder.

Mutation of the MSH2 gene, which is localized on gene locus 2p21

and more rarely

of the genes MLH1(gene locus 3p22) and MSH6

with consecutive disturbance of DNA mismatch repair (see below DNA repair). Also conceivable are unmaskings of a latent Muir-Torre syndrome under long-term immunosuppressive therapy, e.g. with ciclosporin A.

Skin changes often occur in early adulthood, usually a decade before the internal tumor appears. The manifestation peak of internal malignancies is on average 53 years.

Multiple, cutaneous or extracutaneous, primary carcinomas (mainly adenocarcinomas of the gastrointestinal tract, spinocellular carcinoma of the skin) as well as synchronously or metachronously occurring benign and malignant sebaceous gland tumors(sebaceous gland adenomas, sebaceomas, sebaceous gland carcinomas) and basal cell carcinomas. However, emerging sebaceous gland carcinomas behave less aggressively than spontaneously occurring sebaceous gland carcinomas.

MTS is suspected in patients without internal malignancies in the EA if at least 3 of the criteria listed below are present (mod. n. Ko):

• Age: Sebaceous gland tumors aged < 50 years.
• Localization: sebaceous gland tumors outside face and neck.
• Number: 2 or > 2 sebaceous gland tumors.
• FA: Internal malignancies (mainly colorectal or urogenital tumors) in 2 or > 2 first-degree relatives
• Histology: Cystic or keratoacanthoma-like structure.
• Immunohistochemistry: deficiency of MSH2 or MLH1
• Molecular pathology: evidence of microsatellite instability

Timely diagnosis of Torre-Muir syndrome is crucial to initiate preventive measures or necessary surgical procedures.

Screening examinations every 3-6 months, colonoscopy every 2 years (colon carcinomas represent most frequent tumor entity). Avoidance of immunosuppressive therapy (e.g. long-term high-dose administration of glucocorticoids).

Surgical procedure for internal tumors. Excision of the appearing keratoacanthomas as well as the sebaceous gland tumors with histological workup.

The tendency of carcinomas occurring in the context of this syndrome to metastasize is lower than in solitary occurrence. A closely meshed tumour prevention programme (annual endoscopic examinations, urological controls) is necessary.

1. Anders D et al (2012) Muir-Torre syndrome. Dermatologist 63: 226-229
2. Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
3. Burgdorf WHC, Pitha J, Fahmy A (1986) Muir-Torre syndrome. On J Dermatopathol 8: 202-208
4. Burgdorf WHC et al (1988) Autosomal dominant genodermatoses and their association with internal carcinomas. Dermatologist 39: 413-418
5. Cohen PR, Kohn SR, Kurzrock R (1991) Association of sebaceous gland tumors and internal malignancy: The Muir-Torre syndrome. On J Med 90: 606-613
6. Hartig C et al (1995) Muir-Torre syndrome. Dermatologist 46: 107-113
7. Jonas J (2002) Muir-Torre syndrome. Surgeon 73: 366-369
8. Ko CJ (2010) Muir-Torre syndrome: facts and controversities. Clin Dermatol 28: 324-329
9. Korber J, Djawari D (2001) Muir-Torre syndrome. dermatologist 52: 1107-1110
10. Kruse R et al (2003) Frequency of Microsatellite Instability in Unselected Sebaceous Gland Neoplasias and Hyperplasias. J Invest Dermatol 120: 858-864
11. Moura C (2002) Report of a case of Muir-Torre syndrome. J Eur Acad Dermatol Venereol 16: 638-640
12. Muir EG, Yates-Bell AJ, Barlow KA (1967) Multiple primary carcinomata of the colon, duodenum and larynx associated with keratoakanthoma of the face. Br J Surg 54: 191-195
13. Ródenas J et al (1993) Muir-Torre syndrome associated with a family history of hyperlipidemia. J Am Acad Dermatol 28: 285-288
14. Schwartz RA et al (1989) The Muir-Torre Syndrome: A Disease of Sebaceous and Colonic Neoplasms. Dermatologica 178: 23-28
15. Torre D (1968) Multiple sebaceous tumors. Arch Dermatol 98: 549-551
16. Zouboulis C et al (2003) Ciclosporin A - induced sebaceous glands hyperplasia. Br J Dermatol 149: 198-200