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Peutz-Jeghers syndrome

Definition

Peutz-Jeghers syndrome (PJS) is a rare disorder in which growths called polyps form in the intestines. 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.

PJS is caused by a mutation in a gene called STK11/LKB1. There are two types of PJS:

  • Familial PJS is 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 gene and having the disease.
  • Spontaneous PJS is not passed down through families. The gene mutation occurs on its own.

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 child
  • 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 two 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.

Support Groups

The following resources can provide more information on PJS:

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 child 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, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 345.

McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Seattle, WA: University of Washington. www.ncbi.nlm.nih.gov/books/NBK1266. Updated July 14, 2016. Accessed December 27, 2017.


Review Date: 10/26/2017
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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