Cowden syndrome is an inhereted genetic disease. If you have it your child has a 50% chance of having it. If your parent had it you also have a 50% chance of having it. It is caused by a mutation of the Pten gene. It is inhereted equally by both sexes, although the childhood version of the disease tends to be more common in males.

The Pten gene is a cell regulator gene. This means it is one of our genes that helps control cell growth. We get two copies of this gene from our parents,and if one is damaged it is harder for the body to control cell growth. Due to this problem people who have the damaged gene and have cowdens syndrome or BRRS,which is the childhood version of the disease tend to easily grow various things on their body.

 

The most common growth in the adult and childhood version of the disease is a hamartoma. Genetics people have recently renamed both diseases to "The Pten Hamartoma Tumor Syndrome".

A hamartoma is basically an overgrowth of the same tissue on where its located. A lung hamartoma is lung tissue, a breast hamartoma is breast tissue. In Cowdens Syndrome the most known risks for these hamartomas to turn cancerous are in the breast.

 

Another term used in Cowdens management is polyp which is also an overgrowth type of formation. These are most commonly found in the thyroid and colon of the patients.

 

There are also various types of growths on the skin generally small, located on the face, in the mouth and the palms of the hands. The tounge may have a cobblestone appearance.

 

Finally, some patients are prone to various vascular overgrowths which may be hemangioma's or arterial venous malformations. These are both treatable, but need to be evaluated carefully.

There is currently a blood test available for the Pten gene mutation. Currently, about 80% of the Cowden Syndrome patients have a mutation that can be found in the test. The childhood verion of the disease is only 50%.

If the mutation is not found in the blood but the patient has been diagnosed through symptons and a family history the person is still treated as a cowdens patient by doctors. Newly diagnosed patients are given a list of health instructions, which are currently listed on this site to look for various cancers. These recomendations are made up by a group of doctors known as The Cowdens Syndrome Consortium. This list is continued to be followed by the patient unless the instructions change through the researchers.