Cowden's syndrome

Abstract

A 59-year-old woman initially presented with facial papules, which were consistent with trichilemmomas on histopathologic examination. Her course was complicated by breast, endometrial, and renal-cell carcinomas, as well as a multinodular goiter that necessitated a thyroidectomy. Cowden's syndrome is a rare autosomal dominant syndrome that is characterized by hamartomas of ectodermal, mesodermal, and endodermal origin as well as an increased risk of breast, thyroid, and endometrial neoplasias. Medical management includes screening for breast cancer and thyroid abnormalities, and performing other age-specific examinations. Treatment of facial papules includes topical 5-fluorouracil, isotretinoin, curettage, laser ablation, or surgical excision.