title: [Muir-Torre syndrome].
abstract: The Muir-Torre syndrome (MTS) is an autosomal dominant disease defined by the coincidence of at least one sebaceous skin tumor and one internal malignancy. We describe an additional case and give a review of the literature. Over a period of 7 years, 19 skin tumors were excised in a 50 year old male patient. A total of 3 colonic carcinomas, one gastric carcinoma and one laryngeal carcinoma were operated successfully. The underlying defective mutation in the hMSH2 gene and the microsatellite instability were demonstrable. MTS is graded as a subgroup of hereditary non-polyposis colorectal cancer (HNPCC). In patients with MTS and with family members with known defective mutation, regular follow-up and search for new malignancies are mandatory.
authors.affiliation: Klinik für Abdominal- und Thoraxchirurgie, Städtisches Klinikum Karlsruhe, Moltkestrasse 90, 76133 Karlsruhe. AllgemeinChirurgie@Klinikum-Karlsruhe.de
authors.forename: J
authors.initials: J
authors.lastname: Jonas
authors.forename: R
authors.initials: R
authors.lastname: Kruse
authors.forename: R
authors.initials: R
authors.lastname: Bähr
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D002869:Chromosome Aberrations; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D007822:Laryngeal Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D051718:MutS Homolog 2 Protein; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012086:Reoperation; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery
chemical_list: D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein
vernacular_title: Muir-Torre-Syndrom.