Cowden syndrome: A case report

Cowden syndrome or multiple hamartomas syndrome are other names for Cowden disease. It is a hereditary condition with autosomal dominant inheritance pattern, marked by the presence of hamartomas that are capable of affecting any organ and run the risk of developing into cancer. The main cause of Cowden syndrome is usually attributed to a PTEN (phosphatase and tensin homolog) mutation, a tumor suppressor gene that causes unchecked cell division, which gives rise to cancer and hamartomas. Bannayan-Riley-Ruvalcaba syndrome is another condition that shares characteristics with Cowden syndrome. Patients with this syndrome usually have macrocephaly and mucocutaneous lesions. The majority of Cowden syndrome patients eventually acquire cancerous tumors, usually in the breast, thyroid, or endometrium. Studies show that the prevalence is higher in women, and most of the cases documented in the literature involve people of Caucasian heritage. According to certain estimates, the prevalence of Cowden syndrome is roughly 1 in 2,000,000 individuals.