1.
Clin Case Rep
; 10(3): e05537, 2022 Mar.
Article
in English
| MEDLINE
| ID: mdl-35280107
ABSTRACT
The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of sebaceous neoplasia and internal malignancies and caused by mutations in the mismatch repair gene. We describe the case of 58-year-old man who, over the course of several years, had multiple skin lesions and colon cancer. The syndrome was diagnosed using Sanger sequencing, which allowed us to find the causative mutation.