Cowden syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Historical Perspective
Cowden syndrome/ Cowden's disease/ multiple hamartoma syndrome follows autosomal dominant fashion of inheritance. Cowden syndrome was first described in 1940 by Salem and Steck.
Classification
There is no established system for the classification of cowden syndrome.
Pathophysiology
It is thought that cowden syndrome is the result caused by phosphatase and tensin homolog (PTEN) gene mutations. Cowden syndrome follows autosomal dominant pattern of inheritance.
Causes
The most common cause of cowden syndrome is PTEN gene mutations.
Differentiating cowden syndrome from Other Diseases
Epidemiology and Demographics
The incidence of rare disease cowden syndrome is approximately 1 in 250,000 individuals. The prevalence of cowden syndrome is unknown. The incidence of cowden syndrome increases with age. Cowden syndrome affects men and women equally.