Cowden’s Syndrome


Cowden’s Syndrome is an autosomal dominant genetic disorder. It results in the appearence of multiple cowden's syndromnoncancerous, tumor-like growths called hamartomas.

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:

  • breast
  • thyroid
  • endometrium, uterine liningcowden's syndrome multiple harmatomas

Additional symptoms:

  • 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