Author: Vanessa Ngan, Staff Writer, 2004.
Cowden disease is a rare inherited condition characterised by hamartomas in various tissues. Cowden disease is also known as ‘Cowden syndrome’ and ‘multiple hamartoma syndrome’.
Benign hamartomas of the skin and mucosa are present in nearly all cases.
Type 2 segmental Cowden disease is the association of Cowden disease with a Cowden naevus when it is considered a type of epidermal naevus syndrome.
Cowden disease is due to an abnormal PTEN tumour suppressor gene on chromosome 10q23. The PTEN protein product controls cell growth by promoting normal cell death. A mutation on the PTEN gene leads to loss of the protein's function and results in overproliferation of cells that form hamartomatous growths.
Cowden syndrome is an autosomal dominant condition meaning half of an affected person's children also have the syndrome.
A diagnosis of Cowden disease can be made using the criteria below.
|Major criteria||Minor criteria|
Hamartomas confined to the skin and mucous membrane meet the criteria if:
The diagnosis of Cowden disease may also be made when there are:
Diagnosis in a family in which one individual is diagnostic for Cowden disease is made when:
Patients with Cowden disease need to undergo medical and physical examinations and appropriate laboratory and radiographic tests on a yearly basis to check for internal malignancies. Genetic counselling of relatives is very important especially females who are at most risk for malignant complications.
Treatment of the cutaneous features includes:
At least 40% of patients with Cowden disease have at least one cancer. If cancers are detected early their cure rate is high with appropriate treatment. Patients need to be followed-up regularly by a multidisciplinary team of doctors.
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