| Subject | Contents |
| Definition | Peutz-Jeghers syndrome (PJS) is a disorder characterized by intestinal polyps . In addition, pigmented spots develop from infancy through childhood around the lips, gums, mucus membranes, and skin. The polyps develop most commonly in the small intestine, but also in the colon. There may be a significant risk of these polyps becoming malignant and thus of patients developing cancer. Some studies link PJS and cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries. There are two types of PJS -- "familial" PJS is inherited, and "sporadic" PJS means there is no known hereditary link. |
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| Causes, incidence, and risk factors | When inherited, Peutz-Jeghers syndrome is transmitted as an autosomal dominant trait. This means that on average, half of the children of someone with familial PJS will inherit PJS. |
| Symptoms | a family history of Peutz-Jeghers syndrome dark freckles on and around the lips of a newborn brownish or bluish gray pigmented spots on the lips, gums and inner lining of the mouth crampy abdominal pain , vomiting occasional gross blood in the stool |
| Signs and tests | intestinal polyps intussusception (part if the intestines folds in on itself) clubbed fingers or toesexostoses (benign tumors in the ear) anemia Tests genetic testing X-ray of abdomen (to detect intestinal polyps) stool guaiac (a test for blood in the stool) Complete blood count (CBC ) total iron binding capacity (TIBC) (a blood test) biopsy - polyps (colonoscopy or flexible sigmoidoscopy) |
| Treatment | Surgery may be needed to remove polyps that cause chronic problems. Iron supplements help counteract blood loss . In addition, the patient should be monitored periodically to watch for malignant changes in polyps. Comprehensive surveillance guidelines can be found at geneclinics.org . A booklet with additional information by Johns Hopkins University is available at hopkins-coloncancer.org . |
| Support Groups | Information on support groups can be found at the The Network for Peutz-Jeghers and Juvenile Polyposis Syndrome . An electronic mailing list (discussion group) is available at acor.org . |
| Expectations (prognosis) | The outcome varies depending on what problems develop. |
| Complications | intussusception (part if the intestines folds in on itself) polyps that lead to cancer ovarian cysts sex cord tumors |
| Calling your health care provider | Call for an appointment with your health care provider if symptoms of this condition are present. Severe abdominal pain indicates a possible emergency condition such as intussusception . Call for an appointment with your health care provider if planning children and there is a family history of this condition. |
| Prevention | Genetic counseling is recommended for prospective parents with a family history of Peutz-Jeghers syndrome. Genetic counselors can be located through the Cancer Genetics Services Directory. |
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