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Peutz-Jeghers syndrome

  • Definition
    • 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.

  • Alternative Names
    • PJS

  • Causes
    • 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
    • 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)
      • Vomiting
  • 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:

  • Treatment
    • 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.

  • Outlook (Prognosis)
    • 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.

  • Possible Complications
    • Complications may include:

      • Intussusception
      • 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.

  • Prevention
    • Genetic counseling is recommended if you are planning to have children and have a family history of this condition.

  • References
    • 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.