A Case of Cowden Syndrome Associated with Tumor of the Follicular Infundibulum / 대한피부과학회지

ABSTRACT

Cowden Syndrome (CS) is a rare genodermatosis of autosomal-dominant inheritance, with variable expressivity and multiple types of hamartomas. The most consistent features of CS are small wart-like papillomatous papules on the face, hands, and mouth. A 31-year-old woman presented with a history of pearly papules on the face, hand, and foot for several years. The lesions were initially diagnosed as warts, and treated accordingly, but they did not subside. There was a history of endometrial cancer, breast cancer, and thyroid nodule, and her father had a history of thyroid cancer. A biopsy specimen from the facial papule showed plate-like growth of anastomosing epithelial cords, extending parallel to the epidermis. It was diagnosed as a tumor of the follicular infundibulum (TFI). The patient refused further treatment. Here, we report a rare case of CS presenting with TFI.