Muir-Torre syndrome: case report and molecular characterization.

doi:10.1590/1516-3180.2014.1321634

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Article

Muir-Torre syndrome: case report and molecular characterization.

Sao Paulo medical journal = Revista paulista de medicina - 1 Jan 2014

Rios Carolina Alejandra, Villalón Ricardo, Muñoz Jorge, Acuña Mónica, Cifuentes Lucía

Abstract excerpt

CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and urogenital tract. Awareness of this syndrome among physicians can lead to early diagnosis of these malignancies and a better prognosis. CASE REPORT: We report the...

Topics

Adenocarcinoma
Colon
Colonic Neoplasms
Female
Humans
Immunohistochemistry
Microsatellite Instability
Middle Aged
Molecular Diagnostic Techniques
Muir-Torre Syndrome
Mutation
Predictive Value of Tests
Risk Factors
Sequence Analysis, DNA

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Identifiers

PMID: 24474082
DOI: 10.1590/1516-3180.2014.1321634
PMCID: PMC10889459

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