Document Detail


Muir-Torre syndrome: a case report and review of the literature.
MedLine Citation:
PMID:  15839358     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Adam A Pettey; John S Walsh
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Cutis     Volume:  75     ISSN:  0011-4162     ISO Abbreviation:  Cutis     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-04-20     Completed Date:  2005-07-26     Revised Date:  2013-09-12    
Medline Journal Info:
Nlm Unique ID:  0006440     Medline TA:  Cutis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  149-55     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224, USA.
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MeSH Terms
Descriptor/Qualifier:
Colorectal Neoplasms, Hereditary Nonpolyposis / 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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