HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
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).
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EtiopathogenesisThis section has been translated automatically.
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.
ManifestationThis section has been translated automatically.
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 featuresThis section has been translated automatically.
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.
HistologyThis section has been translated automatically.
DiagnosisThis section has been translated automatically.
- 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 diagnosisThis section has been translated automatically.
General therapyThis section has been translated automatically.
External therapyThis section has been translated automatically.
Internal therapyThis section has been translated automatically.
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Progression/forecastThis section has been translated automatically.
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.
LiteratureThis section has been translated automatically.
- Anders D et al (2012) Muir-Torre syndrome. Dermatologist 63: 226-229
- Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
- Burgdorf WHC, Pitha J, Fahmy A (1986) Muir-Torre syndrome. On J Dermatopathol 8: 202-208
- Burgdorf WHC et al (1988) Autosomal dominant genodermatoses and their association with internal carcinomas. Dermatologist 39: 413-418
- 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
- Hartig C et al (1995) Muir-Torre syndrome. Dermatologist 46: 107-113
- Jonas J (2002) Muir-Torre syndrome. Surgeon 73: 366-369
- Ko CJ (2010) Muir-Torre syndrome: facts and controversities. Clin Dermatol 28: 324-329
- Korber J, Djawari D (2001) Muir-Torre syndrome. dermatologist 52: 1107-1110
- Kruse R et al (2003) Frequency of Microsatellite Instability in Unselected Sebaceous Gland Neoplasias and Hyperplasias. J Invest Dermatol 120: 858-864
- Moura C (2002) Report of a case of Muir-Torre syndrome. J Eur Acad Dermatol Venereol 16: 638-640
- 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
- Ródenas J et al (1993) Muir-Torre syndrome associated with a family history of hyperlipidemia. J Am Acad Dermatol 28: 285-288
- Schwartz RA et al (1989) The Muir-Torre Syndrome: A Disease of Sebaceous and Colonic Neoplasms. Dermatologica 178: 23-28
- Torre D (1968) Multiple sebaceous tumors. Arch Dermatol 98: 549-551
- Zouboulis C et al (2003) Ciclosporin A - induced sebaceous glands hyperplasia. Br J Dermatol 149: 198-200
Incoming links (9)Dna repair; Microsatellite instability; Sebaceous adenoma; Sebaceous gland carcinoma; Sebaceous gland carcinoma; Sebaceous glands ectopes; Torre muir syndrome; Torre syndrome; Tumor syndromes, hereditary;
Outgoing links (15)Adnexal tumors with differentiation of sebaceous glands; Basal cell carcinoma (overview); Carcinoma of the skin (overview); Ciclosporin a; Dna repair; Excision; Gene; Glucocorticosteroids; Imiquimod; Isotretinoin; ... Show all
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