Peutz-Jeghers syndrome (PJS) is a disorder passed down through families (inherited) in which the person develops intestinal polyps. A person with PJS has a high risk developing certain cancers.
It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births.
There are two types of PJS:
- Familial PJS may be due to a mutation in a gene called STK11. The genetic defect is passed down (inherited) through families as an autosomal dominant trait. That means if one of your parents has this type of PJS, you have a 50% chance of inheriting the nonworking gene and having the disease.
- Sporadic PJS is not passed down through families and appears unrelated to an STK11 gene mutation.
- Brownish or bluish-gray pigmented spots on the lips, gums, inner lining of the mouth, and skin
- Clubbed fingers or toes
- Cramping pain in the belly area
- Dark freckles on and around the lips of a newborn
- Blood in the stool that can be seen with the naked eye (occasionally)
Exams and Tests
The polyps develop mainly in the small intestine, but also in the colon. A colonoscopy will show colon polyps. The small intestine is evaluated with either a barium x-ray (small bowel series) or a small camera that is swallowed and then take multiple pictures as it travels through the small bowel (capsule endoscopy).
Additional exams may show:
- Intussusception (part of the intestine folded in on itself)
- Noncancerous tumors in the ear (exostoses)
Laboratory tests may include:
- Complete blood count -- may reveal anemia
- Genetic testing
- Stool guaiac
- Total iron-binding capacity (TIBC) - may be associated with iron-deficiency anemia
Surgery may be needed to remove polyps that cause long-term problems. Iron supplements help counteract blood loss.
Persons with this condition should be monitored by a health care provider and be checked periodically for cancerous polyp changes.
There may be a significant risk of these polyps becoming cancerous. Some studies link PJS and cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.
- Intussusception (part of the intestine folds in on itself)
- Polyps that lead to cancer
- Ovarian cysts
- Sex cord tumors
When to Contact a Medical Professional
Call for an appointment with your health care provider if you or your baby have symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.
Genetic counseling is recommended if you are planning to have children and have a family history of this condition.
Goldman L, Ausiello D. Cecil Textbook of Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007.
Donoghue LJ and Klein MD. Tumors of the digestive tract. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 337.
Review Date: 10/29/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.