Condition
PTEN Hamartoma Tumor Syndrome (PHTS)
PTEN hamartoma tumor syndrome (PHTS) is a genetic condition caused by a change (mutation) in the PTEN gene that increases the risk of developing certain tumors and cancers.
What are common symptoms of PTEN hamartoma tumor syndrome (PHTS)?
- Large head circumference (macrocephaly)
- Gastrointestinal (GI) polyps
- Intellectual disability
- Autism spectrum disorder
- Vascular malformations (abnormal development of blood vessels)
- Skin findings, including:
- Lipomas
- Trichilemmomas
- Oral papillomas
- Penile freckling
- Thickened skin of the hands and feet
Does PHTS increase the risk of cancer?
Yes. PHTS is associated with an increased risk of several cancers, including:
- Thyroid cancer
- Breast cancer in females
- Endometrial (uterine) cancer in females
- Colorectal cancer
- Kidney cancer (renal cell carcinoma)
- Melanoma
- Certain brain tumors
Schedule an Appointment
Every child with PTEN hamartoma tumor syndrome (PHTS) is different. We are prepared to meet you where you are, provide information and support, as well as the most advanced diagnosis and treatment for any symptoms affecting your child. Meet the doctors and surgeons who treat children with PTEN hamartoma tumor syndrome and schedule an appointment today.
Departments that Treat PTEN Hamartoma Tumor Syndrome
Oncology
The Oncology Program at Children's National is ranked one of the best cancer centers for children by U.S. News & World Report thanks to our high level of experience and expertise. Learn more about this program.
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