| Muir-Torre syndrome: Diagnostic and screening guidelines. | |
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MedLine Citation:
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PMID: 17034469 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Brad Jones; Carol Oh; Elisabeth Mangold; Conleth A Egan |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Australasian journal of dermatology Volume: 47 ISSN: 0004-8380 ISO Abbreviation: Australas. J. Dermatol. Publication Date: 2006 Nov |
Date Detail:
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Created Date: 2006-10-12 Completed Date: 2007-01-09 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0135232 Medline TA: Australas J Dermatol Country: Australia |
Other Details:
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Languages: eng Pagination: 266-9 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Our Lady of Lourdes Hospital, Drogheda, Ireland. bradjones@ausdoctors.net |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*, genetics*, pathology DNA Mismatch Repair Diagnosis, Differential Face / pathology Genetic Predisposition to Disease* Genetic Testing / standards Humans Male Practice Guidelines as Topic Sebaceous Gland Neoplasms / diagnosis*, genetics*, pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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