Cowden syndrome (also known as "Cowden's disease," and "Multiple hamartoma syndrome") is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.
Cowden syndrome is associated with loss-of-function mutations in PTEN, a tumor suppressor gene, leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple trichilemmomas, papillomatous papules, and acral keratoses) and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). In addition, there is a presdisposition to breast carcinoma, follicular carcinoma of the thyroid, and endometrial carcinoma.
Read more about Cowden Syndrome: Signs and Symptoms, History, Epidemiology, Genetics, Treatment
Famous quotes containing the word syndrome:
“Women are taught that their main goal in life is to serve others—first men, and later, children. This prescription leads to enormous problems, for it is supposed to be carried out as if women did not have needs of their own, as if one could serve others without simultaneously attending to one’s own interests and desires. Carried to its “perfection,” it produces the martyr syndrome or the smothering wife and mother.”
—Jean Baker Miller (20th century)