An Interesting Case of Muir-Torre Syndrome
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.
South CD, Hampel H, Comeas I, et al. The frequency of Muir-Torre syndrome among Lynch syndrome families. Oxford Journal. 2008; 100(4):277-81.
Cohen PR, Kohn R, Kurzrock R. Association of sebaceous gland tumors and internal malignancy: The Muir–Torre syndrome. The American Journal of Medicine. 1991; 90(5): 606-13.
Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol. 2005; 6(12):980-7.
Akhtar S, Oza KK, Khan SA, Wright J. Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol. 1999; 41(5 Pt 1):681-6.
Ponti G, Meschieri A, Pollio A, et al. Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. J Oral Pathol Med. 2015; 44(7):552-7.
Roberts ME, Riegert-Johnson DL, Thomas BC, et al. A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. Genet Med. 2014; 16(9):711-6.
Abbas O, Mahalingam M. Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm. J Cutan Pathol. 2009; 36(6):613-9.
Machin P, Catasus L, Pons C. Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome. J Cutan Pathol. 2002; 29(7):415-20.
Orta L, Klimstra DS, Qin J, et al. Towards identification of hereditary DNA mismatch repair deficiency: sebaceous neoplasm warrants routine immunohistochemical screening regardless of patient's age or other clinical characteristics. Am J Surg Pathol. 2009; 33(6): 934-44.
Graefe T, Wollina U, Schulz H, Burgdorf W. Muir-Torre syndrome – treatment with isotretinoin and tnterferon alpha-2a can prevent tumour development. Dermatology. 2000; 200(4): 331-3.
Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. Dis Colon Rectum. 2014; 57(8):1025-48.
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