Abstract
Cowden syndrome (CS; also known as multiple hamartoma syndrome) is a rare autosomal dominant disorder characterized by multiple hamartomas and a high risk of development of thyroid, breast, endometrial and other cancers. The cardinal features of the disease, which often lead to diagnosis, include mucocutaneous papillomatous papules and trichilemmomas. Most affected people develop these characteristic lesions by the age of 20 years. Once diagnosed, gene identification can be offered to family members of affected patients. We report a case of the disease and briefly review the current literature.
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