Cowden Syndrome Accompanied by Multiple Sclerotic Fibroma on the Face / 대한피부과학회지

ABSTRACT

Cowden syndrome (CS) is a rare genodermatosis that is characterized by multiple hamartomatous tumors of an ectodermal, mesodermal and endodermal origin. CS is associated with an increased risk of malignancy and especially breast cancer, thyroid cancer, uterine cancer and renal cell carcinoma. The characteristic features of the disease are mucocutaneous findings, including multiple facial trichilemmomas, oral mucosal papillomatosis and acral keratoses. Multiple sclerotic fibroma is also known to be a clue to diagnose CS. We herein emphasize that multiple sclerotic fibromas of the skin are an important marker of CS, which may also be helpful for making an early diagnosis.