PTEN Hamartoma Tumour syndrome (PHTS)
Also known as: PHTS; Cowden syndrome; CS; Bannayan-Riley-Ruvalcaba syndrome; BRRS
PTEN Hamartoma Tumour Syndrome (PHTS) is a rare genetic condition caused by a change in the PTEN gene.
You might also hear other names used for PHTS, including Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). These diagnoses were described before genetic testing was widely available. Once it was discovered that changes in the same PTEN gene could cause these conditions, they became recognised as part of the broader diagnosis of PHTS.
In this article
What are the symptoms of PTEN Hamartoma Tumour syndrome?
PHTS can affect people in different ways, even within the same family. Some people have only a few features, while others have more complex needs.
Features can include:
· benign (non-cancerous) growths called hamartomas; these can include overgrowth of blood vessels, called vascular anomalies and also arterio-venous malformations.
· macrocephaly (a larger head size)
· skin changes, often harmless growths that can help with diagnosis
· developmental differences, including learning needs or autism in some individuals
• certain cancers including breast, thyroid, bowel, skin and womb.
How is PTEN Hamartoma Tumour syndrome diagnosed?
A diagnosis of PHTS is usually confirmed through genetic testing, which identifies a change in the PTEN gene.
Before genetic testing was widely available, people were often diagnosed with conditions such as Cowden syndrome or BRRS based on their symptoms. Today, if a PTEN gene change is identified, these diagnoses are generally considered part of PHTS.
How is PTEN Hamartoma Tumour syndrome treated?
There is no single treatment for PHTS. Care is usually based on a person’s individual symptoms and needs.
Because PHTS is associated with an increased risk of certain cancers, Genetic Specialists give advice about appropriate screening and monitoring.
Inheritance patterns and prenatal diagnosis of PTEN Hamartoma Tumour syndrome
Inheritance patterns
PHTS can be inherited, although some people are the first in their family to have the condition.
Genetic specialists can explain inheritance patterns, testing for other family members, and family planning options where appropriate.
Support for people affected by PTEN HamartomaTumour syndrome and their families
If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service.
We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.
We’ve listed a support group below and you can also meet other parents online in our closed Facebook group.
PTEN UK & Ireland (PTENUKI)
Email: [email protected]
Website: https://ptenuki.org/
PTEN UK & Ireland are a Registered Charity in England and Wales No. 1172205. They provide information and peer support for individuals and families affected by PHTS and works to raise awareness and support ongoing PTEN research.
Group details added May 2026.
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Credits
Medical text written March 2026 by PTEN UK & Ireland.
Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.