Muir torre syndrome Q87.89

Authors: Prof. Dr. med. Peter Altmeyer, Anna Lohbeck

All authors of this article

Last updated on: 06.12.2022

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Muir Torre Syndrome; OMIM 158320; Torre Muir Syndrome; Torre Syndrome

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Muir, 1967; Torre, 1968

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

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.

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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.

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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.

Clinical features
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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.

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Detection of sebaceous gland adenomas or highly differentiated sebaceous gland carcinomas.

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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

Differential diagnosis
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General therapy
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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).

External therapy
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Local immunomodulators can lead to a reduction in the incidence of tumours. The use of Imiquimod (e.g. Aldara) 3 times/week has proven successful here. Extensively on the most frequently affected areas, especially on the areas that are freely carried, e.g. the face.

Internal therapy
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Experiments with isotretinoin (e.g. isotretinoin-ratiopharm; acne normin) to inhibit sebaceous gland proliferation have been described.

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

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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.

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  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


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Last updated on: 06.12.2022