An Interesting Case of Muir-Torre Syndrome

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Samuel Paul Haslam
Robert C Smith


Muire-Torre syndrome, Lynch syndrome, sebaceous adenoma, sebaceous carcinoma, keratoacanthoma, immunohistochemistry


Case Presentation:

R.S. is an 83 year old male with a personal history of a sebaceous adenoma in 2006 as well as a family history of colon cancer who presented with an 8 millimeter, erythematous, hyperkeratotic papule in the medial right eyebrow. Biopsy revealed sebaceous lobules with a slight increase in thickness of the immature layer of the periphery of the lobule, and the lesion was characterized as a sebaceous adenoma. Immunoperoxidase stains revealed partial loss of staining for MLH-1 and PMS-2. Given the patient's history of multiple sebaceous neoplasms, personal and family history of colon cancer, and loss of staining for MLH-1 and PMS-2, the patient was diagnosed with Muir-Torre syndrome.


Muir-Torre syndrome is a rare autosomal dominant syndrome that is believed to be a variant of hereditary nonpolyposis colorectal cancer ("Lynch syndrome"). However, in comparison to Lynch Syndrome, Muir-Torre syndrome can be diagnosed in the absence of a family history of malignancies and requires only the presence of a sebaceous tumor and internal malignancy alone. Individuals with Muir-Torre syndrome are prone to colon, breast, and genitourinary tract cancers, as well as cutaneous manifestations such as numerous keratoacanthomas and sebaceous tumors.

In patients with sebaceous neoplasms, routine immunohistochemical detection of loss of DNA mismatch repair proteins helps to identify hereditary DNA mismatch repair deficiency. When the diagnosis of Muir-Torre syndrome is established, it is advised that both patients and their first-degree relatives follow the same screening criteria for colon cancer and other malignancies as those with Lynch Syndrome.



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