PJS (Peutz-Jeghers syndrome) is a condition where people can develop polyps in the intestine and freckling on the skin. The polyps in PJS grow mainly in the small bowel but can develop in the stomach and colon. The polyps look like a mushroom on a stalk.
Freckling occurs in most but not all people with PJS. The freckling occurs most often on the lips and inside of the mouth. You can ask your doctor about having freckles on your lips safely removed by a skin specialist. Sometimes, kids don't understand why the freckles develop, especially when there are lots of them on the lips. Removing them can make a big difference. Sometimes, freckling is seen on the hands, feet, and eyelids.
The polyps in PJS can cause problems in some people. Polyps can cause a blockage of the bowel. People usually have belly pain and may start vomiting. If you ever have these symptoms, you should be checked out right away by a doctor. Sometimes, polyps can bleed causing your red blood cell count (hemoglobin) to decrease. A low red blood cell count can make you feel tired. It is important to have a physical examination every year by your doctor.
Kids with PJS should be monitored by a specialist. Generally, colonoscopy is recommended when symptoms start or, if no symptoms occur, to begin in your teens. Generally, upper endoscopy and colonoscopy is recommended at least once every two years once started. In the future, tests such as capsule endoscopy will likely become available to check for polyps. This is a tiny capsule (the size of a large pill) which you can swallow. The capsule goes down into your stomach and through your intestines. The whole time the capsule is inside it is taking pictures of the lining of your intestines. This allows your doctor to review the film to check the number of polyps, to see where the polyps are, and to check the size of the polyps. This test is being studied in adults and kids