How healthcare providers can recognize external warnings of visceral cancers: A case study

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BSTRACT

Muir–Torre syndrome (MTS) is a rare autosomal dominant disorder characterized by sebaceous neoplasms and an increased risk of visceral malignancies, particularly colorectal cancer. Cutaneous lesions may precede or coincide with internal cancers, making early recognition critical for detection. We report a 45-year-old male who presented with two cyst-like lesions diagnosed as sebaceous adenoma and sebaceous carcinoma. Given the rarity of sebaceous tumors and a significant family history of colon cancer, further evaluation was prompted. Additional sebaceous lesions were identified on dermatologic examination, although colonoscopy was negative. Germline testing revealed a pathogenic MSH2 mutation, confirming MTS. This case highlights the importance of recognizing sebaceous neoplasms and obtaining a thorough family history to raise suspicion of hereditary cancers. Early diagnosis enables cancer surveillance and testing of at-risk relatives, shifting management from late-stage detection to proactive prevention.