Gourt > Health > Conditions and Diseases > Genetic Disorders > Cowden Syndrome
Cowden syndrome is an inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer. Almost everyone with this condition has hamartomas. These small, noncancerous 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. People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and uterus. Noncancerous breast and thyroid diseases are also common. Other signs and symptoms of Cowden syndrome can include an enlarged head, a rare noncancerous brain tumor called Lhermitte-Duclos disease and mental retardation.
Epidemiology
Because Cowden syndrome can be difficult to diagnose, the exact prevalence is unknown; however, it probably occurs in at least 1 in 200,000 people.
Genetics
Mutations in the PTEN gene cause Cowden syndrome. PTEN is a tumor suppressor gene, which means it helps control the growth and division of cells. Inherited mutations in the PTEN gene have been found in about 80 percent of people with Cowden syndrome. These mutations prevent the PTEN protein from effectively regulating cell survival and division, which can lead to the formation of tumors. Cowden syndrome is one of several inherited diseases caused by mutations in the PTEN gene. More on [ Cowden syndrome ]
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Cowden Syndrome - A CHORUS notecard document about this syndrome.
Meta Description: [ a CHORUS notecard document about Cowden syndrome ]
Cowdens Syndrome Support Group - Offers information and message boards for families and patients affected by the disease.
Meta Description: [ Welcome to our non-profit's web site! ]
Emergency Medicine - A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up.
Meta Description: [ Cowden Disease (Multiple Hamartoma Syndrome) - Cowden disease (CD), also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results most commonly (80%) from a mutation in the PTEN gene on arm 10q, as reported by Liaw et al. A... ]
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