Case Report
Published: May 11, 2025 | DOI: 10.24911/ejmcr.9-2071
An Atypical Finding of Muir-Torre Syndrome: A Case Report
Authors:
Felix Rivera Troia
, Lara Diez Asad
, Mario Oronoz Alcover
, Milaris Sanchez Cordero
, Fernando Ocasio Villa
Article Info
Authors
Lara Diez Asad
Ponce Health Sciences University
Mario Oronoz Alcover
Ponce Health Sciences University
Milaris Sanchez Cordero
Mayaguez Medical Center
Fernando Ocasio Villa
Mayaguez Medical Center
Publication History
Received: April 10, 2025
Accepted: April 25, 2025
Published: May 11, 2025
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
Pubmed Style
Felix Rivera Troia, Lara Diez Asad, Mario Oronoz Alcover, Milaris Sanchez Cordero, Fernando Ocasio Villa. An Atypical Finding of Muir-Torre Syndrome: A Case Report. EJMCR. 2025; 11 (May 2025): -. doi:10.24911/ejmcr.9-2071
Web Style
Felix Rivera Troia, Lara Diez Asad, Mario Oronoz Alcover, Milaris Sanchez Cordero, Fernando Ocasio Villa. An Atypical Finding of Muir-Torre Syndrome: A Case Report. https://ejmcr.com/index.php/articles/2071 [Access: May 15, 2025]. doi:10.24911/ejmcr.9-2071
AMA (American Medical Association) Style
Felix Rivera Troia, Lara Diez Asad, Mario Oronoz Alcover, Milaris Sanchez Cordero, Fernando Ocasio Villa. An Atypical Finding of Muir-Torre Syndrome: A Case Report. EJMCR. 2025; 11 (May 2025): -. doi:10.24911/ejmcr.9-2071
Vancouver/ICMJE Style
Felix Rivera Troia, Lara Diez Asad, Mario Oronoz Alcover, Milaris Sanchez Cordero, Fernando Ocasio Villa. An Atypical Finding of Muir-Torre Syndrome: A Case Report. EJMCR. (2025), [cited May 15, 2025]; 11 (May 2025): -. doi:10.24911/ejmcr.9-2071
Harvard Style
Felix Rivera Troia, Lara Diez Asad, Mario Oronoz Alcover, Milaris Sanchez Cordero, Fernando Ocasio Villa (2025) An Atypical Finding of Muir-Torre Syndrome: A Case Report. EJMCR, 11 (May 2025): -. doi:10.24911/ejmcr.9-2071
Chicago Style
Felix Rivera Troia, Lara Diez Asad, Mario Oronoz Alcover, Milaris Sanchez Cordero, Fernando Ocasio Villa. "An Atypical Finding of Muir-Torre Syndrome: A Case Report." 11 (2025), -. doi:10.24911/ejmcr.9-2071
MLA (The Modern Language Association) Style
Felix Rivera Troia, Lara Diez Asad, Mario Oronoz Alcover, Milaris Sanchez Cordero, Fernando Ocasio Villa. "An Atypical Finding of Muir-Torre Syndrome: A Case Report." 11.May 2025 (2025), -. Print. doi:10.24911/ejmcr.9-2071
APA (American Psychological Association) Style
Felix Rivera Troia, Lara Diez Asad, Mario Oronoz Alcover, Milaris Sanchez Cordero, Fernando Ocasio Villa (2025) An Atypical Finding of Muir-Torre Syndrome: A Case Report. , 11 (May 2025), -. doi:10.24911/ejmcr.9-2071