Definition

A rare genetic disorder in which many polyps (abnormal growths of tissue) form in the lining of the gastrointestinal tract, and dark-colored spots appear on certain areas of the skin, such as around the mouth, eyes, and nose. People with PJS have a very high risk of developing gastrointestinal cancer and other types of cancer, including cancers of the breast, pancreas, ovary, lung, and cervix. PJS is usually caused by mutations (changes) in the STK11 gene. Some people with PJS do not have a mutation in the STK11 gene. In these cases, the cause of the disorder is unknown. Also called Peutz-Jeghers syndrome.