Authors: Felix Rivera Troia , Lara Diez Asad , Mario Oronoz Alcover , Milaris Sanchez Cordero , Fernando Ocasio Villa

Abstract

Background

Muir-Torre Syndrome (MTS) is an infrequent autosomal-dominant genodermatosis characterized by the presence of sebaceous tumors and visceral malignancies. These tumors typically manifest as sebaceous adenomas, epitheliomas, or carcinomas. Colorectal cancer is the most prevalent internal malignancy linked with MTS. The syndrome stems from germline mutations in the DNA mismatch repair genes hMSH2 and hMLH1, aligning it with Lynch syndrome, also recognized as hereditary nonpolyposis colorectal cancer. Lynch syndrome involves inherited deficiencies in DNA mismatch repair genes, resulting in microsatellite instability.

Case Presentation

In this report, we describe the case of a 54-year-old man diagnosed with sebaceous adenomas. Given his family's history of colorectal cancer, genetic screening for hMSH2 genes was recommended. Molecular gene sequencing revealed two heterozygous deletion mutations in exon 7 and 9 of the hMSH2 gene in the patient.

Conclusion

This case underscores the significance of a multidisciplinary care approach, comprehensive medical history assessment, and timely identification of high-risk individuals. Such measures facilitate appropriate screening and surveillance, thereby mitigating the morbidity and mortality associated with this syndrome.

Keywords: Muir-Torre, Gastroenterology, Lynch Syndrome, Sebaceous Adenomas