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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- Genetics Home Reference: Cowden Syndrome Provides an overview of this rare disorder characterized by multiple noncancerous, tumor-like growths and its genetic background.
- Wikipedia: Cowden Syndrome Encyclopedia article on this rare autosomal dominant inherited disorder characterized by multiple tumor-like growths.
- Cowden Syndrome Provides information for physicians on this autosomal dominant inherited disorder.
- EMedicine: Cowden Disease A introduction of Cowden disease followed by an in depth report, including treatment, medication and follow up.
- Cowden Syndrome A CHORUS notecard document about this syndrome.