What is Cowden syndrome

Cowden syndrome is a rare genetic disorder characterized by the development of multiple noncancerous growths called hamartomas throughout the body. These growths can affect various organs and tissues, including the skin, mucous membranes, thyroid, breast, and gastrointestinal tract.

Individuals with Cowden syndrome have an increased risk of developing certain types of cancers, particularly breast, thyroid, and endometrial cancer. Additionally, they may experience other health issues such as benign breast tumors, macrocephaly (abnormally large head size), and intellectual disability.

Diagnosis of Cowden syndrome is based on clinical criteria that include the presence of specific features and a family history of the condition. Genetic testing can confirm the diagnosis by identifying mutations in the PTEN gene, which is associated with Cowden syndrome.

Management of Cowden syndrome involves regular screenings and surveillance to detect and treat any potential cancerous or precancerous growths. This may include mammograms, thyroid ultrasounds, and colonoscopies. Surgical removal of certain growths or preventive measures like medication may be recommended.

It is important for individuals with Cowden syndrome to receive genetic counseling and have their family members evaluated for the condition, as it can be inherited in an autosomal dominant manner.