Rare Polyposis Syndromes
PTEN Hamartoma Syndrome
PTEN hamartoma syndrome is a rare disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and carries an increased risk of developing certain cancers. PTEN hamartoma syndrome includes patients who have received diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis. They also harbor mutations in the tumor suppressor gene PTEN.
Nearly everyone with Cowden syndrome develops hamartomas. These are growths usually found on the skin and mucous membranes (such as the lining of the mouth and nose) and typically appear by a person's late twenties. They can also occur in the intestinal tract and other parts of the body.
These individuals are at increased risk for several types of cancer, including cancers of the breast, thyroid and the lining of the uterus (the endometrium). Noncancerous breast and thyroid diseases are also common. Other signs and symptoms of this syndrome can include an enlarged head (macrocephaly); a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and mental retardation.
Physicians at Chidlren's Hospital have experience in using capsule endoscopy in the management of PTEN hamartoma syndrome.
Hereditary Mixed Polyposis Syndrome
Hereditary mixed polyposis syndrome (HMPS) is a hereditary condition that is associated with an increased risk of developing a variety of polyp types in the digestive tract. The most common polyp type is the hamartomatous juvenile polyp. Adenomatous, hyperplastic and inflammatory polyps may occur as well. People with HMPS also have an increased risk of developing colorectal, pancreatic, breast and renal cancers.