[Muir-Torre syndrome].
The Muir-Torre syndrome (MTS) is a rare, autosomal-dominant inherited disease characterized by sebaceous gland tumors and at least one internal malignancy. In many cases a genetic defect known as microsatellite instability can be identified. Similar pathogenetic mechanisms are found in patients with the hereditary non-polyposis colon cancer syndrome, so that at least some patients with MTS are considered as having a phenotypic variant of that syndrome. A 66-year-old woman with MTS, developed multiple malignant cutaneous and visceral tumors over 32 years; in addition, she had multiple sebaceous gland adenomas. Microsatellite instability could be proved with 2 out of 5 studied markers. The family history was positive as numerous relatives of the patient's mother were reported to have developed internal malignancies.
Körber
J
J
Hautklinik des Klinikums Heilbronn, Am Gesundbrunnen, 74064 Heilbronn.
Djawari
D
D
D000236:Adenoma / Q000175:diagnosis / Q000235:genetics*; D000368:Aged; D002277:Carcinoma / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012626:Sebaceous Gland Neoplasms / Q000175:diagnosis / Q000235:genetics*