PTEN hamartoma tumor syndrome
(… HA-mar-TOH-muh TOO-mer SIN-drome)
A group of inherited disorders caused by mutations (changes) in the PTEN gene. In people with PTEN hamartoma tumor syndrome, 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 PTEN hamartoma tumor syndrome 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 PHTS.