What is Cowden syndrome?

Updated: Jun 06, 2020
  • Author: Jaime Shalkow, MD, FACS; Chief Editor: Cameron K Tebbi, MD  more...
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Cowden syndrome is an autosomal dominant transmitted disease with hamartomas of all 3 embryonal layers. Facial trichilemmomas, oral papillomas, multinodular goiter, and GI polyps with occasional GI cancer may also be found in patients with this syndrome. Fibrocystic breast disease and esophageal glycogenic acanthosis have been described. [25] These patients have a higher risk of breast and thyroid cancer. Germline mutations have been identified in the PTEN gene. Lhermitte-Duclos disease is a variant of Cowden syndrome associated with cerebellar hamartomatous overgrowth.

Treatment is directed toward alleviating symptoms of pain, bleeding, or obstruction. Polyps should be removed when symptomatic, and screening to detect subsequent development of more polyps is warranted.

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