Author: Vanessa Ngan, Staff Writer, 2004.
Cowden disease is also known as ‘Cowden syndrome’ and ‘multiple hamartoma syndrome’.
Cowden disease is a rare inherited condition characterised by:
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|
Skin and mucous membrane lesions alone meet the criteria if
The diagnosis may also be made in the following circumstances:
Diagnosis in a family in which one individual is diagnostic for CD 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.
See the DermNet NZ bookstore
© 2018 DermNet New Zealand Trust.
DermNet NZ does not provide an online consultation service. If you have any concerns with your skin or its treatment, see a dermatologist for advice.