PTEN Hamartoma Tumor Syndrome (PHTS) | Symptoms and Causes
What are the symptoms of PTEN hamartoma tumor syndrome?
Symptoms of PTEN hamartoma tumor syndrome (PHTS) can vary from person to person. Common symptoms may include:
An increased risk for certain cancers, including cancer of the:
- breast
- thyroid
- renal cells
- endometrium (lining of the uterus)
- colon or rectum
- skin (melanoma)
Benign (non-cancerous) tumors on the:
- breast
- thyroid
- uterus
- gastrointestinal tract
Vascular abnormalities including:
Growths on the skin including:
- lipomas (fatty lesions)
- acral keratoses (raised lesions on the hands and feet)
- papillomas (smooth raised lesions)
- trichilemmomas (hair follicle lesions)
- fibromas (overgrowths affecting skin and connective tissue)
- penile freckling
Neurological and neurodevelopmental problems, including:
- macrocephaly (enlarged head size)
- autism spectrum disorder
- intellectual disability
- developmental delays
What are the causes of PTEN hamartoma tumor syndrome?
PHTS results from a change in the PTEN gene. The PTEN gene is a tumor suppressor that helps keep cell growth in check. When there is a defect in the PTEN gene, cell growth can go unchecked, causing tumors and an increased cancer risk.
