Cowdens Syndrome Definition

Cowden syndrome (CS), also known as multiple hamartoma syndrome or Cowden disease, was first described by Lloyd and Dennis in 1963 (1) as a multisystem disorder with characteristic mucocutaneous lesions and abnormalities of the breast, thyroid, and gastrointestinal tract. They named the disorder after their first patient, Rachel Cowden, who died due to breast cancer. CS is a rare genetic disorder with an autosomal-dominant pattern of inheritance and variable expressivity. Characteristic lesions present in nearly all patients with CS include trichilemmomas on the face, acral keratoses on the hands, and oral papillomas of the mouth. Benign and malignant neoplasms of the breast and thyroid occur in up to two-thirds of patients. Intestinal tract hamartomatous polyps are seen in more than one-half of patients (2).

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