Cowden's Syndrome

A rare autosomal dominant hamartoma/neoplasia syndrome [MIM 158350] characterised by multiple hamartomas—which arise from all three germ cell layers, most prominently from the ectoderm and endoderm, in particular hamartomas of skin and the GI tract, from the stomach to the colon—and an increased risk of developing cancer, including the breast, thyroid, and uterus. Women with Cowden’s syndrome have up to a 50% lifetime risk of developing breast cancer and up to 75% have benign breast disease—fibroadenomas, fibrocystic changes
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References in periodicals archive ?
Barwell, "Cowden's syndrome with immunodeficiency," Journal of Medical Genetics, vol.
Cowden syndrome is a serious genetic disorder characterized by multiple hemartomas usually of skin, but also of thyroid, G.I tract, Bones, CNS, Eyes and G.U tract Cowden's syndrome is considered part of PTEN hemartomas tumor syndrome (PHTS) which also includes Bannyan--Riley --Ruvalcaba syndrome, proteus syndrome, and proteus--like syndrome.
The dermatopathology of Cowden's syndrome. Br J Dermatol.
In patients with Cowden's syndrome, retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel's thyroiditis, and inflammatory pseudotumor of the orbit can all manifest, either alone or in combination.
Cowden's syndrome (Multiple Hamartoma Syndrome): This rare condition is characterized by the presence of gastro intestinal, oral and cutaneous hamartomas and neoplasms of the breast and thyroid.
Cowden's syndrome is considered part of PTEN hemartomas tumor syndrome (PHTS) which also includes Bannyan--Riley --Ruval caba syndrome, proteus syndrome, and proteus--like syndrome.