Cowden Disease (also known as “Multiple hamartoma syndrome”) is a rare autosomal dominant inherited disorder characterized by multiple colonic hamartomatous polyps. It is also associated with a number of benign skin tumours (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum.
Patient’s with Cowden disease are at increased risk of colorectal, breast, thyroid (follicular) and endometrial carcinoma.
Cowden syndrome is associated with loss-of-function mutations in PTEN, a tumour suppressor gene, leading to hyperactivity of the mTOR pathway.
Intensive surveillance with regular gastroscopy and colonoscopy, and ultrasound of thyroid and breast and endometrium are needed to detect early changes leading to cancer.