title: Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome.
abstract: Distinguishing cutaneous signs which are associated with hereditary cancer-prone syndromes are known as cancer-associated genodermatoses. Muir-Torre syndrome (M-T) is characterized by the occurrence of sebaceous hyperplasia, adenoma and carcinoma, basal cell carcinoma with sebaceous differentiation, and/or keratoacanthoma in association with visceral cancer (often multiple), and improved survival. Family studies of M-T have been either wholly lacking or too incomplete to elucidate hereditary aetiology. We describe the cutaneous phenotype of M-T in an extended kindred with a possible variant of the Cancer Family Syndrome. We emphasize the need for more thorough documentation of family histories and cancer association in this cancer-associated genodermatosis in order to clarify hereditary syndrome identification, and to improve cancer control through employment of cutaneous signs as a beacon for highly targeted forms of visceral cancer.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003110:Colonic Neoplasms / Q000235:genetics; D005260:Female; D006801:Humans; D006965:Hyperplasia / Q000235:genetics; D007636:Keratoacanthoma / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010375:Pedigree; D012627:Sebaceous Glands / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics; D013577:Syndrome