Looking beyond the surface: Muir Torre syndrome

Ekta Bagga, David Innes, Edmund Leung


Muir-Torre Syndrome (MTS) is associated with multiple visceral malignancies. Initial presentation may be a benign skin tumor mimicking a sebaceous cyst. This case report highlights the importance of early diagnosis, genetic testing, and multidisciplinary screening. A 67-year-old man was diagnosed with MTS following excision of a skin lesion (sebaceoma). He was declined both screening colonoscopy and genetic testing. Subsequently, advanced colon cancer was found following presentation with iron deficiency anemia, which ultimately led to palliation despite successful surgery. MTS can present insidiously with skin lesions clinically diagnosed as sebaceous cysts. Once MTS is suspected on histology, genetic testing and screening for MTS-related cancers is warranted. Better understanding of the genetic variants for MTS can aid in earlier diagnosis thus not dismissing the need for screening for MTS-related cancers.


Muir-Torre Syndrome; Lynch Syndrome; Colorectal Cancer; Sebaceoma

Full Text:



Duarte M, Milikowski C. Gastrointestinal polyposis with associated cutaneous manifestations. Pathology. 2022;54(2):157-166. doi: 10.1016/j.pathol.2021.08.009. PMID: 34763900.

Singh RS, Grayson W, Redston M, et al. Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia. Am J Surg Pathol. 2008;32(6):936-942. doi: 10.1097/pas.0b013e31815b0cc2. PMID: 18551751.

Kunnackal John G, Das Villgran V, Caufield-Noll C, Giardiello FM. Comparison of universal screening in major lynch-associated tumors: a systematic review of literature. Fam Cancer. 2022;21(1):57-67. doi: 10.1007/s10689-020-00226-w. PMID: 33426601.

Roberts ME, Riegert-Johnson DL, Thomas BC, et al. A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. Genet Med. 2014;16(9):711-716. doi: 10.1038/gim.2014.19. PMID: 24603434.

Everett JN, Raymond VM, Dandapani M, et al. Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. JAMA Dermatol. 2014;150(12):1315-1321. doi: 10.1001/jamadermatol.2014.1217. PMID: 25006859; PMCID: PMC4977578.

Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol. 2005;6(12):980-987. doi: 10.1016/S1470-2045(05)70465-4. PMID: 16321766.

Le S, Ansari U, Mumtaz A, et al. Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders. Dermatol Online J. 2017;23(11):13030/qt8sg5w98j. PMID: 29447627.

DOI: http://dx.doi.org/10.22551/2023.40.1003.10255

Copyright (c) 2023 Ekta Bagga, David Innes, Edmund Leung

Creative Commons License
Archive of Clinical Cases is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.


ISSN: 2360-6975