Cowden syndrome
Cowden syndrome (pronounced: /ˈkaʊdən ˈsɪndroʊm/) is a rare, autosomal dominant genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain types of cancer.
Etymology
The syndrome is named after Rachel Cowden, a patient who was diagnosed with the condition in 1963. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms."
Symptoms
People with Cowden syndrome may develop hamartomas in various parts of the body. These growths are most commonly found on the skin, mucous membranes (such as the lining of the mouth and nose), and the gastrointestinal tract. Other symptoms may include macrocephaly (an unusually large head), thyroid problems, and breast cancer.
Causes
Cowden syndrome is caused by mutations in the PTEN gene. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the PTEN gene disrupt these functions, leading to the formation of hamartomas and an increased risk of developing cancer.
Diagnosis
Diagnosis of Cowden syndrome is based on clinical criteria, which include the presence of certain types of hamartomas and specific types of cancer. Genetic testing can also be used to identify mutations in the PTEN gene.
Treatment
There is currently no cure for Cowden syndrome. Treatment is focused on managing symptoms and monitoring for signs of cancer. This may include regular physical exams, imaging studies, and laboratory tests.
See also
External links
- Medical encyclopedia article on Cowden syndrome
- Wikipedia's article - Cowden syndrome
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