Cowden Syndrome Genetic Disorders Conditions and Diseases

Cowden disease (CD), also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results from a mutation in the PTEN gene on chromosome arm 10q, as reported by Liaw et al. CD causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, central nervous system (CNS), eyes, and genitourinary tract. Skin is involved in 90-100% of cases; the thyroid in 66%.

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• Cowden Syndrome - A CHORUS notecard document about this syndrome.
• EMedicine: Cowden Disease - A introduction of Cowden disease followed by an in depth cowden syndrome report, including treatment, medication and follow up.

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