PHTS gets its name because a common characteristic of the condition is lumps and bumps on the skin and in the digestive tract. These are called hamartoma tumours. These are usually benign (non-cancerous) but people with PHTS are also more likely to develop malignant tumours, which means that their risk of getting certain types of cancer is higher.
Other characteristics associated with the faulty PTEN gene include having a larger than average head (known as macrocephaly) and, in some cases, neurological symptoms such as cognitive difficulties and autism. Some children may experience a delay in developing speech or reaching developmental milestones such as standing. Read more about the symptoms of PHTS here.
Today, PHTS is diagnosed using a genetic test. Anyone who has an alteration or ‘mutation’ in their PTEN gene is considered to have PHTS. Before the widespread use of genetic testing, people were diagnosed according to their particular set of symptoms.
There is currently no cure for PHTS. Symptoms can be managed, and people are monitored so that any signs of cancer can be spotted and treated as early as possible. You can find blog posts about what it is like to live with PHTS on the PTEN UK&I Patient Group website.