Cowden disease

Author: Vanessa Ngan, Staff Writer, 2004.

Cowden disease is also known as ‘Cowden's syndrome’ and ‘multiple hamartoma syndrome’.

What is Cowden disease?

Cowden disease is a rare inherited condition characterised by:

Cutaneous features

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.

Non-cutaneous features

What is the cause of Cowden disease?

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.

How is the diagnosis made?

A diagnosis of Cowden disease can be made using the criteria below.

Major criteriaMinor criteria
  • Breast cancer
  • Thyroid cancer, especially follicular thyroid carcinoma
  • Macrocephaly (very large head)
  • Lhermitte-Duclos disease
  • Other thyroid lesions
  • Mental retardation
  • GI hamartomas
  • Fibrocystic disease of the breast
  • Lipomas
  • Fibromas
  • Genitourinary tumours

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:

What is the treatment for Cowden disease?

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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