A Case of Muir-Torre Syndrome with Multiple Cancers of Bilateral Eyelids and Breast

Department of Ophthalmology Faculty of Medicine, Kagoshima University Graduate School of Medicine and Dental Sciences, Kagoshima, Japan.
Korean Journal of Ophthalmology 06/2013; 27(3):204-7. DOI: 10.3341/kjo.2013.27.3.204
Source: PubMed


We report a case of Muir-Torre syndrome (MTS) with a very rare combination of cancers, involving bilateral eyelid cancers and breast cancer. A 71-year-old female with a history of breast cancer from 18 years prior presented with bilateral eyelid tumors. One of her siblings had lung cancer, and another had pancreatic cancer. She underwent excisional biopsy of the eyelid tumors and histopathology revealed sebaceous carcinoma of the right eyelid and basal cell carcinoma of the left. She was diagnosed with MTS: a skin cancer associated with visceral malignancy. Immunohistochemical tests for mutS homolog 2 showed a lack of expression in both eyelid carcinomas.

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    ABSTRACT: Intraoral sebaceous carcinoma is a rare form of sebaceous carcinoma (SC) with only nine published cases in the world literature to date. We present a tenth case of intraoral SC located in the anterior maxillary gingiva with metastases to the lung and subcutis and discuss three possible etiologies for this unique presentation. We analyze the clinical presentation, pathology, histology and genetic testing for a single case study and review relevant literature. The histologic findings of the lung tumor and surgical excisions of the tumors in the gingiva and subcutis suggest the gingiva is the primary site. There is no evidence for the genetic abnormalities consistent with Muir-Torre syndrome (MTS). The histologic findings suggest the oral cavity is the most likely site of tumor origin. This is the first case of intraoral SC reported to arise in the gingiva as well as to spread to cutaneous sites. This article is protected by copyright. All rights reserved. © 2015 Wiley Periodicals, Inc.
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