Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of polyps in the gastrointestinal tract and distinctive pigmented spots on the lips, mouth, hands, and feet. These polyps can occur in various parts of the digestive system, including the stomach, small intestine, and colon.
PJS is caused by mutations in the STK11 gene, which is responsible for regulating cell growth and division. These mutations are typically inherited from a parent, but in some cases, they can occur spontaneously.
One of the key features of PJS is the increased risk of developing certain types of cancer, particularly in the gastrointestinal tract, pancreas, breast, ovaries, and lungs. The polyps themselves can also cause complications such as intestinal obstruction or bleeding.
Diagnosis of PJS involves a combination of clinical evaluation, genetic testing, and imaging studies. Treatment options focus on managing symptoms and reducing the risk of complications. This may include regular surveillance for cancer, endoscopic removal of polyps, and surgical interventions when necessary.
Due to the potential health implications, individuals with PJS and their families may benefit from genetic counseling and close monitoring by a multidisciplinary healthcare team.