Abstract:

We present a rare association with a case of Muir-Torre syndrome (MTS), a subtype of Lynch syndrome (hereditary non-polyposis colorectal cancer). MTS is a rare hereditary autosomal dominant cancer disorder associated with microsatellite instability (MSI) and germline mutations in mismatch repair genes typically MLH1, MSH2, or MSH6. Typical patient presentation for MTS is characterized by the combination of sebaceous gland tumor and internal malignancy, most commonly colorectal. Our patient is a 57-year-old female with past medical history significant for sebaceous adenoma on the head and arm beginning in 2005 with recurrence in 2007 and 2019, colon cancer in 2010, breast cancer in 2017 now presenting in late 2020 with a Cushing syndrome symptoms including moon face, buffalo hump, virilization, hypertension, and abdominal striae. A CT scan of the abdomen showed a large right adrenal mass (24 cm in greatest dimension) which was confirmed to be high-grade adrenocortical carcinoma after radical adrenalectomy. Mismatch repair immunohistochemistry (MMR IHC) on this individuals sebaceous adenoma reportedly revealed absence of the MSH2 and MSH6 proteins. A genetics reports showed mutations within five of the seven tested MSI-H associated gene regions (supporting MSI-H). BMPR1A c.733T>A (p.Tyr245Asn) and MSH2 c.942+3A>T (IVS5+3A>T) were identified on the KPSC Hereditary Cancer Panel. This is a rare case of a patient with Muir-Torre syndrome who developed a high-grade adrenocortical carcinoma as the associated internal malignancy with resulting Cushing syndrome symptoms. This combination of sebaceous adenoma with internal malignancy and Cushing syndrome due to adrenocortical carcinoma in a patient with MTS, is something so far not reported. Our observation emphasizes the importance of the Dermatologist in monitoring future MTS cases for any of the hyperfunctioning adrenocortical related sign and symptoms such as hypertension, virilization, and striae.

Financial Disclosure:
No current or relevant financial relationships exist.

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Matthew Lund, MD