Muir torre syndrome Q87.89

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

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Last updated on: 29.10.2020

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Synonym(s)

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

History
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Muir, 1967; Torre, 1968

Definition
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Rare, familial (autosomal-dominantly inherited) and sporadically occurring tumour syndrome, characterised by multiple skin tumours(sebaceous gland neoplasias, basal cell carcinomas, keratoacanthomas) and carcinomas of internal organs: colorectal carcinoma (49%), carcinomas of the urogenital tract (20%); breast carcinomas (10%); myeloproliferative diseases (9%), carcinomas of the upper gastrointestinal tract (7%).

It is assumed that the syndrome is a (minus) variant of hereditary nonpolyposis colon cancer syndrome, HNPCC (Lynch syndrome type II).

Etiopathogenesis
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Autosomal dominant hereditary disease. Mutation of the gene MSH2, which is mapped on gene locus 2p21, and more rarely of the gene MSH1(gene locus 3p22), with consecutive disruption of DNA mismatch repair (see below DNA repair). Demasking of a latent TM syndrome under long-term immunosuppressive therapy, e.g. with Ciclosporin A, is also conceivable.

Manifestation
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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, cutaneously or extracutaneously localised primary carcinomas (especially adenocarcinomas of the gastrointestinal tract, spinocellular carcinoma of the skin) as well as synchronously or metachronously occurring benign and malignant tumours of the sebaceous glands and basal cell carcinomas. However, sebaceous gland carcinomas are less aggressive than spontaneously occurring sebaceous gland carcinomas.

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

Diagnosis
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MTS is suspected in patients without internal malignancies in the EA if at least 3 criteria are present (mod. n. Ko):
  • Age: Tumours of the sebaceous glands at age < 50 years
  • Location: Tumours of the sebaceous glands outside the face and neck
  • Number: 2 or > 2 Tumours of the sebaceous glands
  • FA: Internal malignancies (mainly colorectal or urogenital tumours) in 2 or > 2 first degree relatives
  • Histology: Cystic or keratoacanthoma-like structure
  • Immunohistochemistry: Deficiency of MSH2 or MLH1
  • Molecular pathology: Detection of microsatellite instability

Differential diagnosis
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General therapy
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Timely diagnosis of Torre Muir syndrome is essential to initiate preventive measures. Screening examinations every 3-6 months, colonoscopy every 2 years (colon carcinomas are the most common tumour 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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Removal of internal tumours by the surgeon. Excision of the occurring keratoacanthomas as well as sebaceous gland tumors with histological work-up.

Progression/forecast
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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.

Literature
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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. RĂ³denas 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: 29.10.2020