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Cowden Disease
Tuesday, 26 October 2004
Sunday, 28 November 2004
Cowden Syndrome, Multiple Hamartoma Syndrome


Cowden disease (CD) is a very rare inherited disorder characterized by multiple noncancerous growths, called hamartomas, on the skin and other parts of the body. People with CD have an increased risk of developing cancer in the breast and thyroid as well as in other parts of the body.


CD is very rare. It is estimated to occur in 1 in 200,000 people. Boys and girls of all races and ethnicities are affected equally. Symptoms of CD typically first present when an affected person is in the early 20s. In some cases, symptoms are seen as early as birth and in other cases, as late as the mid- 40’s.

Signs and Symptoms

Almost all people with CD will have hamartomas involving the skin. These hamartomas can appear as small flesh-colored, flat-topped, wart-like lesions around or inside the mouth, on the tongue, on the back of the hands and feet, or on the palms and soles. Lipomas, which are noncancerous fatty growths, can also occur. The head is large in 80% of patients. The growth of a hamartoma in the brain can cause the head to enlarge in infants. Loss of balance and coordination due to increased brain pressure can occur in older children. This can lead to serious complications if not treated. Developmental delay and learning problems can also occur. Sixty percent of patients with CD have involvement of the thyroid with goiter formation, which is usually noncancerous growths and fluid filled cysts. Thyroid cancer does occur in 7% of patients with CD. Seventy-five percent of women have noncancerous growths in their breasts; however, breast cancer does develop in 30% of women. Ovarian cysts and uterine fibroids also occur and 5% of women with CD develop endometrial cancer. Seventy percent of people with CD have polyps in the intestinal track, but colon cancer is a rare occurrence. Up to 10% of patients have eye problems such as near-sightedness or cataracts. Bone cysts, a small jaw and curvature of the spine are seen less commonly.

Possible Causes

Eighty percent of CD is caused by a genetic change (mutation) in a gene named PTEN located on chromosome 10. This gene normally makes proteins that control cell growth and cell death. In CD, this regulation is lost and uncontrolled cellular growth results in hamartomas or cancer. CD is inherited in an autosomal dominant manner. This means that a child has to inherit only one gene with a change to have this disorder. If one parent has the genetic change there is a 50% chance that each child will inherit the changed gene. Some cases are not inherited and are instead the result of a new spontaneous mutation that occurred in the baby during pregnancy.


The diagnosis of CD is made based on the finding of hamartomas, a large head, and/or certain cancers. A single diagnostic test does not exist. Various tests will often be done regularly to monitor for cancer development. These may include special blood tests, thyroid studies, urine analysis, skin biopsy, annual mammograms, and MRIs of the brain.


There is no cure for CD. However, researchers hope to one day correct the genetic defect. The skin problems can be at least partially treated with medication. Surgery can also be done to remove hamartomas, especially those in the brain.


The most worrisome complication of CD is cancer. Up to 40% of patients with CD develop at least one cancer. Yearly examinations to monitor for possible cancer growth are crucial in patients with CD. Most of the cancers are curable if detected early.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Cowden Syndrome Foundation
Provides information, newsletters and networking for families.

Virtual Childrens Hospital
Support group and resources. Contact a Family, for families with disabled children
UK charity organization providing support groups and publications.

Google Search for Cowden Disease

References and Sources