title: Muir-Torre syndrome: Diagnostic and screening guidelines.
abstract: A 65-year-old man presented with a history of multiple skin coloured papules on his face that were asymptomatic. He had an adenocarcinoma resected from his proximal colon 12 years prior to presentation as well as a family history of colon cancer on the maternal side. Diagnostic biopsies showed the lesions to be sebaceous adenomas and epitheliomas and the diagnosis of Muir-Torre syndrome was made. The sebaceous tumour tissue showed microsatellite instability and immunohistochemical staining indicated diminished expression in the DNA mismatch-repair protein complex MSH2/MSH6. Genetic analysis showed a germline mutation in the MSH2 gene confirming the diagnosis of Muir-Torre syndrome. The patient and his first-degree relatives have been referred for genetic counselling and screening. We review the diagnostic criteria in this syndrome and review the recommended screening guidelines.
authors.affiliation: Department of Dermatology, Our Lady of Lourdes Hospital, Drogheda, Ireland. bradjones@ausdoctors.net
authors.forename: Brad
authors.initials: B
authors.lastname: Jones
authors.forename: Carol
authors.initials: C
authors.lastname: Oh
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Mangold
authors.forename: Conleth A
authors.initials: CA
authors.lastname: Egan
mesh_terms: D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D053843:DNA Mismatch Repair; D003937:Diagnosis, Differential; D005145:Face / Q000473:pathology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000592:standards; D006801:Humans; D008297:Male; D017410:Practice Guidelines as Topic; D012626:Sebaceous Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology