Definition

A group of inherited disorders caused by mutations (changes) in the PTEN gene. In people with PHTS, many benign (not cancer) growths called hamartomas form in different parts of the body, especially the skin, mouth, and gastrointestinal tract. Benign tumors may also occur in the thyroid, breast, uterus, soft tissue, and brain. Other signs and symptoms include a larger-than-average head, abnormal skin changes, blood vessel problems, autism spectrum disorder, and learning and developmental delays. People with PHTS have an increased risk of developing certain types of cancer, including melanoma and cancers of the breast, thyroid, kidney, endometrium, colon, and rectum. Also called PTEN hamartoma tumor syndrome.