| Muir-Torre syndrome: a case report and review of the literature. | |
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MedLine Citation:
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PMID: 15839358 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The presence of sebaceous skin tumors with visceral neoplasms is known as Muir-Torre syndrome (MTS). It is a phenotypic subset of hereditary nonpolyposis colorectal cancer and is caused by mutations in genes encoding for mismatch repair (MMR) proteins. The presence of a sebaceous gland neoplasm should raise concern for a potential diagnosis of MTS. Immunohistochemical analysis of the sebaceous skin tumors can be helpful in screening for an MMR defect and preselecting patients who are at increased risk of a visceral malignancy. We report a case of MTS and show immunohistochemical analysis of the sebaceous neoplasm. We also review the literature on MTS and the effectiveness of immunohistochemical analysis in screening patients at risk for MTS. |
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Authors:
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Adam A Pettey; John S Walsh |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Cutis; cutaneous medicine for the practitioner Volume: 75 ISSN: 0011-4162 ISO Abbreviation: Cutis Publication Date: 2005 Mar |
Date Detail:
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Created Date: 2005-04-20 Completed Date: 2005-07-26 Revised Date: 2009-11-11 |
Medline Journal Info:
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Nlm Unique ID: 0006440 Medline TA: Cutis Country: United States |
Other Details:
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Languages: eng Pagination: 149-55 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Colorectal Neoplasms, Hereditary Nonpolyposis
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diagnosis*,
genetics Humans Male Middle Aged Sebaceous Gland Neoplasms / diagnosis*, genetics Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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