COWDEN DISEASE Meaning and
Definition
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Cowden disease, also known as Cowden syndrome or multiple hamartoma syndrome, is a rare genetic disorder characterized by the development of multiple noncancerous growths called hamartomas in various parts of the body. Named after the American physician Lloyd U. Cowden who first described it in 1963, this condition is primarily caused by mutations in the PTEN gene.
Cowden disease commonly manifests during early adolescence or adulthood, and its symptoms vary widely among affected individuals. The hamartomas associated with this disorder can appear on the skin, mucous membranes, and internal organs, leading to the formation of multiple benign tumors. These growths frequently affect the breasts, thyroid gland, colon, and uterus, although other sites of involvement are possible as well.
In addition to hamartomas, individuals with Cowden disease may experience other health issues, such as an increased risk of developing certain types of cancer, including breast, thyroid, and uterine cancer. Furthermore, affected individuals may also exhibit characteristic physical features like a large head circumference, facial papules and trichilemmomas (benign skin tumors), as well as macrocephaly (enlarged head) in some cases.
Genetic testing can be utilized for the diagnosis of Cowden disease in individuals with suggestive clinical features. Once diagnosed, regular monitoring and screening tests are recommended to detect potential malignancies or other complications associated with the disorder. Management options for Cowden disease often involve a multidisciplinary approach, combining surgical interventions, targeted therapies, and surveillance to effectively manage the symptoms and improve the quality of life for affected individuals.
Common Misspellings for COWDEN DISEASE
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Etymology of COWDEN DISEASE
Cowden disease, also known as Cowden syndrome, is named after its discoverer, the American physician Lloyd Cowden. He first described the condition in 1963 along with his colleague David H.R. Fraumeni Jr. It is a rare genetic disorder characterized by the development of multiple non-cancerous polyps, as well as an increased risk of certain types of cancer.
Similar spelling words for COWDEN DISEASE
