Muir-Torre syndrome: case report and molecular characterization.

ABSTRACT:

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 case of a Chilean patient who, over the course of several years, had multiple skin lesions, endometrial cancer and colon cancer. The syndrome was diagnosed using molecular techniques such as microsatellite instability analysis, immunohistochemistry and DNA sequencing, which allowed us to find the causative mutation.

Conclusion

Molecular diagnostics is a highly usef

SUBMITTER: Rios CA 

PROVIDER: S-EPMC10889459 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature