Dermatology grand rounds at the NIH
New facial papules in a 66-year-old woman with bladder cancer

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Key teaching points

• Muir-Torre Syndrome (MTS) is an autosomal dominant cancer syndrome that results from a mutation in mismatch repair genes. It is characterized by sebaceous neoplasms, keratoacanthomas, and visceral neoplasm(s) affecting the colon, uterus, ovaries, bladder, or other organs.

• Mismatch repair immunohistochemistry and microsatellite instability testing of sebaceous neoplasms are available to confirm a diagnosis of MTS.

• Early recognition of cutaneous features of MTS could lead to early diagnosis and prevention of advanced neoplasms in patients and family members.

Section snippets

History

A 66-year-old woman from India was referred to the Dermatology Consultation Service at the National Institutes of Health for evaluation of multiple small, skin-colored papules on her forehead. She was undergoing follow-up after achieving a near pathologic complete response to neoadjuvant chemotherapy with dose-dense methotrexate, vinblastine, doxorubicin, and cisplatin chemotherapy followed by a radical cystectomy and ileal conduit formation for muscle-invasive urothelial bladder carcinoma. The

Discussion

MTS is a variant of Lynch syndrome, or hereditary nonpolyposis colorectal cancer, a hereditary cancer syndrome with increased risk of colorectal and extracolonic malignancies. MTS is distinguished by the development of at least 1 cutaneous sebaceous neoplasm (sebaceous adenoma, sebaceous epithelioma, sebaceous carcinoma) or multiple keratoacanthomas, in addition to at least 1 visceral neoplasm.1, 2, 3, 4 MTS-associated skin lesions are seen in approximately 9% of individuals with Lynch syndrome.

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  • Cited by (3)

    This research was supported by the Intramural Program of National Institutes of Health (NIH), Center for Cancer Research, National Cancer Institute, and the NIH Medical Research Scholars Program, a public-private partnership supported jointly by the National Institutes of Health and generous contributions to the Foundation for the NIH from Pfizer Inc, the Doris Duke Charitable Foundation, the Alexandria Real Estate Equities Inc and Mr and Mrs Joel S. Marcus, and the Howard Hughes Medical Institute, as well as other private donors.

    Conflicts of interest: None declared.

    Reprints not available from the authors.

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