Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation

Muir-Torre syndrome is a rare, autosomal dominant genodermatosis characterized by thepresence of at least one sebaceous gland neoplasm, associated with an underlyingvisceral malignancy. Muir-Torre syndrome is believed to be a subtype of LynchSyndrome. Affected individuals are found to have germline mutations predominantly inDNA mismatch repair gene MSH2, and much less frequently, MLH1. The authors report thecase of a 55-year-old woman presenting with multiple cutaneous neoplasms includingsebaceoma, basal cell carcinoma, and squamous cell carcinoma; personal history ofcolorectal and endometrial cancer; and family history of colorectal cancer; found tohave a deletion at mismatch repair gene MLH1. It is important to recognize the roleof these less common gene deletions in producing the Muir-Torre syndrome phenotype,and consider the correlation of cutaneous manifestations with internal disease. Theauthors discuss the clinical presentation of Muir-Torre syndrome, methods ofdiagnosis, and the importance of regular medical surveillance to detect and preventdisease progression in Muir-Torre syndrome patients and their family members.A 55-year-old woman with a history of colorectal and endometrial cancer status post-partialcolectomy and total abdominal hysterectomy, squamous cell carcinoma (SCC), basal cellcarcinoma (BCC), and hypertension presented to the clinic for evaluation of a nasal lesion.She was unsure of the total duration the lesion had been present, yet stated that the areahad recently been changing in character with crusting and pain. The patient admitted tosimilar appearing lesions in the past, which had been biopsied, as well as treated withelectrocautery and cyrotherapy. She had previously undergone Mohs micrographic surgery forSCC of the left breast, as well as BCC of the right nasal ala. Prior biopsy reportsrevealed history of two sebaceomas of the right nose for which no further intervention wasperformed. Family history was positive for visceral malignancy, as her mother was deceasedat age 64, secondary to colon cancer. The patient could not recall a history of cutaneouslesions in her mother and had no known family history of skin cancer. A review of systemswas otherwise negative.