What is PTEN hamartoma tumor syndrome?

Also known as: PHTS.

PTEN hamartoma tumor syndrome gets its name due to the gene that is impacted by this group of diseases, the PTEN gene. The primary symptoms is the presence of hamartomas, which are non-cancerous growths that can affect various areas of the body. Other symptoms can also be present.

What causes PTEN hamartoma tumor syndrome?

PTEN hamartoma tumor syndrome is caused by a mutation in the PTEN gene. In some cases, the disease is inherited and passed along from parents to children. Other times the mutation occurs spontaneously.

What are the symptoms of PTEN hamartoma tumor syndrome?

Along with the growths of hamartomas throughout the body, other symptoms include thick skin and callouses on the hands and feet, large head size, learning disabilities, and an increased risk of tumors that can be cancerous or non-cancerous, among other risks.

What are PTEN hamartoma tumor syndrome care options?

Patients with PTEN hamartoma tumor syndrome need to be under close observation due to their increased cancer risk. Medications, surgery and various therapies can be used to treat the other symptoms that arise.

Reviewed by: Paul A Cardenas, MD

This page was last updated on: 1/29/2019 3:21:13 PM

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