Peutz-Jeghers syndrome (PJS) is a disorder in which growths called polyps form in the intestines. It is passed down through families (inherited). A person with PJS has a high risk of 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 2 types of PJS:
- Familial PJS may be due to a mutation in a gene called STK11. The genetic defect can be inherited through families as an autosomal dominant trait. That means if 1 of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease.
- Sporadic PJS is not passed down through families and appears unrelated to an STK11 gene mutation.
Symptoms of PJS are:
- Brownish or bluish-gray 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 (sometimes)
Exams and Tests
The polyps develop mainly in the small intestine, but also in the large intestine (colon). An exam of the colon called a colonoscopy will show colon polyps. The small intestine is evaluated in 2 ways. One is a barium x-ray (small bowel series). The other is a capsule endoscopy, in which a small camera is swallowed and then takes many pictures as it travels through the small intestine.
Additional exams may show:
- Part of the intestine folded in on itself (intussusception)
- Benign (noncancerous) tumors in the ear
Laboratory tests may include:
- Complete blood count -- may reveal anemia
- Genetic testing
- Stool guaiac, to look for blood in stool
- Total iron-binding capacity (TIBC) -- may be linked with iron-deficiency anemia
Surgery may be needed to remove polyps that cause long-term problems. Iron supplements help counteract blood loss.
People with this condition should be monitored by a health care provider and checked regularly for cancerous polyp changes.
There may be a high risk for these polyps becoming cancerous. Some studies link PJS with cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.
Complications may include:
- Polyps that lead to cancer
- Ovarian cysts
- A type of ovarian tumors called sex cord tumors
When to Contact a Medical Professional
Call for an appointment with your provider if you or your baby has 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.
Donoghue LJ. Tumors of the digestive tract. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 345.
McGarrity TJ, Amos CI, Frazier ML, Wei C. Peutz-Jeghers syndrome. GeneReviews. Seattle, WA: University of Washington; 2013:7. www.ncbi.nlm.nih.gov/books/NBK1266/ Accessed October 27, 2015.
Review Date: 10/27/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.