These growths (hamartomas) are most commonly found on:
- the skin
- mucous membranes (such as the lining of the mouth and nose), most common
- the intestinal tract and other parts of the body, rare.
Abnormal growths on the skin and mucous membranes typically appear by a person’s late twenties.
The inherited disease also increases the risk of developing certain cancers. Most common are those of:
- macrocephaly, enlarged head
- a rare, noncancerous brain tumor called Lhermitte-Duclos disease
- intellectual disability
The gentic mutation associated with Cowden’s syndrome
- mutations within the PTEN gene
- PTEN is a tumor suppressor gene
- Mutations in the PTEN gene have been identified in about 85 percent of people with Cowden syndrome.
- PTEN controls and regulates normal cell division
Genetics Home Reference. 2009. Cowden’s Syndrome. Retrived May 18 from http://ghr.nlm.nih.gov/condition=cowdensyndrome