Last Reviewed May 29, 2009
Symptoms & Characteristics
Cowden syndrome is a rare disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.
Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. Abnormal growths on the skin and mucous membranes typically appear by a person's late twenties.
People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and the lining of the uterus (the endometrium). Noncancerous breast and thyroid diseases are also common.
Other signs and symptoms of Cowden syndrome can include an enlarged head (macrocephaly); a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and mental retardation.
Treatment
Early diagnosis of Cowden syndrome and routine cancer surveillance may help to detect cancer in early stages, when treatment may be more effective.
How Common Is It?
Researchers estimate that Cowden syndrome affects about 1 in 200,000 people; however, the exact prevalence of this condition is unknown because it can be difficult to diagnose.
Genetics & Inheritance
Mutations in the PTEN gene cause Cowden syndrome.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous and cancerous tumors.
In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Genetic Testing
Cancer predisposition testing for Cowden syndrome may be available
through an in person genetic consultation for people who are considered at risk.
Use our find a genetic professional directory to locate a trained genetic professional
in your area.
Support & More Information
More information can be
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Alternative Names
- Cowden's disease
- Cowden's syndrome
- CS
- MHAM
- Multiple hamartoma syndrome