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Background: Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the association of at least 1 cutaneous sebaceous tumor and 1 internal malignancy, often arising in the gastrointestinal tract. It is secondary to germline mutations in DNA mismatch repair genes, mainly MLH-1 and MSH-2., Observations: We report the case of a 54-year-old man with a 2-year history of skin-colored papules clinically reminiscent of large sebaceous hyperplasias on the nose and back, but histologically diagnosed as sebaceous adenomas and epitheliomas. His family history was positive for colon cancer in the mother and 2 brothers. A colonoscopy done during the hospitalization revealed 2 sessile polyps in the left colon, both showing a low-grade dysplasia on the biopsy specimen. Immunohistochemical staining performed on the cutaneous and colic biopsy specimens revealed a lack of expression of MSH-2 and MSH-6. Genetic testing revealed microsatellite instability in the colon and cutaneous tumors., Conclusion: The immunohistochemical testing for MSH-2, MSH-6, and MLH-1 is useful for rapid identification of an underlying mismatch repair defect and early diagnosis of MTS.

Sebaceous carcinoma is an uncommon cutaneous malignant neoplasm that rarely metastasizes. We report a case in which a moderately well-differentiated sebaceous carcinoma arising on the anterior aspect of the chest produced widespread visceral metastases. This unexpected clinical behavior underscores the fact that sebaceous carcinoma of the skin can sometimes be very biologically aggressive.

Two patients with sebaceous neoplasms and visceral carcinomas (Torre's syndrome) exemplified features noted but not emphasized by authors of the 11 previously reported cases: family history of carcinoma, internal carcinomas of low-grade malignancy, and concomitant colonic polyposis and keratoacanthomas. Five other cases previously reported appear to represent this syndrome. The cutaneous neoplasms may be important markers for visceral carcinomas in such patients and in family members.

Six cutaneous tumors developed in a 48-year old man, involving his face, right axilla, trunk, and right thigh, during an eight-year period. Biopsy of the lesions demonstrated multiple plate-like lobules of basophilic cells, with broad attachments to the overlying epidermis. Keratin-filled cysts and clusters of sebaceous cells were present within the lobules. None of the tumors have recurred following electrodesiccation and curettage.

Multiple cutaneous sebaceous neoplasms with or without keratocanthomas are associated with internal low-grade malignant neoplasms, usually of the gastrointestinal (GI) tract (Torre syndrome). We describe a 75-year-old man with multiple sebaceous adenomas, sebaceous epithellomas, and keratoacanthomas in association with multiple colonic polyps. In one polypoid lesion, an adenocarcinoma was noted histologically. Although GI tract carcinoma is clearly established with the Torre syndrome, the occurrence of multiple GI polyps has not been recognized to our knowledge.

Sebaceous neoplasms are a marker for malignancy in the Muir-Torre syndrome. Bowen's disease has also been regarded by some as a cutaneous marker for various internal malignancies. An 89-year-old woman was noted to have a sebaceous carcinoma arising within a focus of vulvar Bowen's disease. To our knowledge, this is the first known instance of such an occurrence. The finding of a sebaceous carcinoma in association with an atypical proliferation of keratinocytic, rather than basaloid, origin is unusual and is not accounted for in most classifications of sebaceous malignancy. This observation further supports the pluripotential nature of the cell line giving rise to both Bowen's disease and sebaceous neoplasms.