Cowden syndrome

Cowden syndrome
Other names	Cowden's disease, multiple hamartoma syndrome
Kaplan–Meier plot showing cumulative risk for the development of cancer in males (blue lower curve) and females (red upper curve) with Cowden syndrome from birth to age 70.
Specialty	Oncology, Dermatology, Gastroenterology, Neurology
Frequency	1 in 200,000 individuals

Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers.^[1] It is often underdiagnosed due to variability in disease presentation, but 99% of patients report mucocutaneous symptoms by age 20–29.^[2] Despite some considering it a primarily dermatologic condition, Cowden's syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly.^[3]

The incidence of Cowden's disease is about 1 in 200,000, making it quite rare.^{[4][page needed]} Furthermore, early and continuous screening is essential in the management of this disorder to prevent malignancies.^[4] It is associated with mutations in PTEN on 10q23.3, a tumor suppressor gene otherwise known as phosphatase and tensin homolog, that results in dysregulation of the mTOR pathway leading to errors in cell proliferation, cell cycling, and apoptosis.^[5] The most common malignancies associated with the syndrome are adenocarcinoma of the breast (20%), followed by adenocarcinoma of the thyroid (7%), squamous cell carcinomas of the skin (4%), and the remaining from the colon, uterus, or others (1%).^{[6][page needed]}