Cowden disease

Also known as: 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.


Medical text written September 2004 by Contact a Family. Approved September 2004 by Dr D Hargrave. Last updated September 2011 by Dr D Hargrave, Consultant Paediatric Oncologist, Great Ormond Street Hospital for Children, London, UK.

What are the symptoms?

Features of CD may include:

  • hamartomas most commonly to be found on the skin and mucous membranes (lining of passages that open to outside the body), such as the lining of the mouth and nose but also in the intestines and other parts of the body
  • non-cancerous tumours of the breast and thyroid (a small gland in the neck)
  • increased likelihood of breast, thyroid and endometrial (mucous membrane lining of the uterus) cancers. Males are more likely to develop thyroid cancer and females are more likely to develop breast cancer
  • macrocephaly (increased head size)
  • learning disability
  • Lhermitte-Duclos disease – presence of a cerebellar dysplastic gangliocytoma (a type of benign brain tumour).

How is it diagnosed?

Diagnosis of CD is based on identification of the distinctive skin features of the disorder. Individuals with CD need to be regularly screened for cancers.

How is it treated?

The main component of management is based on early detection, by screening, of cancerous lesions (tissue) with the appropriate surgical and oncological treatment depending on type and stage (how progressed the cancer is). For benign (non-cancerous) skin lesions, treatment options may include oral retinoids, chemical peels, laser resurfacing, surgery and shave excisions (cutting the lesion with a blade), dependent of the expert advice of a dermatologist.

Clinical trials are on-going evaluating the use of mTOR inhibition which targets the underlying abnormal pathway associated with CD.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
CD is inherited in an autosomal dominant manner.

Prenatal diagnosis
This is possible by chorionic villus sampling (CVS) at about ten to 12 weeks or amniocentesis at 16 to 18 weeks if the mutation of the PTEN gene affecting the family is known.

Is there support?

There is no support group for Cowden disease in the UK. Cross referrals to other entries in The Contact a Family Directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for Cowden disease.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also connect with other families in our closed Facebook group

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