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Case Reports
. 2023 Sep 20;10(3):119-122.
doi: 10.22551/2023.40.1003.10255. eCollection 2023.

Looking beyond the surface: Muir Torre syndrome

Ekta Bagga  1 , David Innes  2 , Edmund Leung  1
Affiliations
Case Reports

Looking beyond the surface: Muir Torre syndrome

Ekta Bagga et al. Arch Clin Cases. .

Abstract

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.

Keywords: Colorectal Cancer; Lynch Syndrome; Muir-Torre Syndrome; Sebaceoma.

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Figures

Fig. 1
Fig. 1
Initial presentation of a sebaceous cyst like sebaceoma.
Fig. 2
Fig. 2
(A) Dermal nodule (HE, x20); (B) Dermal nodule consisting of >50% basaloid cells (left) and mature sebocytes (right) (HE, x40). (C) Mismatch repair enzymes showing loss of MSH2 (IHC, Anti-MSH2 Ab, x40); (D) Mismatch repair enzymes showing normal staining for MLH1 (IHC, Anti-MLH1 Ab, x40).
Fig. 3
Fig. 3
Hepatic flexure adenocarcinoma during colonoscopy.
See this image and copyright information in PMC

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