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Cowden disease

Background

Cowden disease: Cowden syndrome; Multiple Hamartoma syndrome

Cowden disease (CD) is a rare inherited disorder of multiple hamartomas (non-cancerous tumour like growths) and an increased risk of a number of types of cancer. CD is named after the family of Rachel Cowden in whom the disorder was described in 1963. CD's mode of inheritance was identified in 1972 and the alternative name of Multiple Hamartoma syndrome was suggested.

It is estimated that CD affects 1 in 300,000 individuals but is underdiagnosed. Both males and females are affected by CD. Onset is usually by the late twenties. CD is caused by mutations of the PTEN tumour suppressor gene on chromosome10.

What are the symptoms? View What are the symptoms?

Medical text written September 2004 by Contact a Family. Approved September 2004 by Dr D Hargrave, Consultant Paediatric Oncologist, Royal Marsden Hospital, Sutton, UK.

 

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