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Cowden disease
Background
Cowden disease: Cowden syndrome; Multiple Hamartoma syndrome
Cowden disease (CD) is a rare inherited disorder which is characterised by multiple hamartomas (non-cancerous tumour-like growths) and an increased risk of a number of types of cancer a person may experience (see entry 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 250,000 individuals, but is probably underdiagnosed. Both males and females are affected by CD. Onset is usually by the late twenties. CD is caused by mutation in a gene called PTEN, this is a tumour suppressor gene on Chromosome 10.
