Thursday, February, 09, 2012

Peutz-Jeghers syndrome

Table of Contents

Alternative Names

PJS


Symptoms
  • 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)
  • Vomiting

Signs 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)


Review Date: 10/15/2009
Reviewed By: Todd Eisner, MD, Private practice specializing in Gastroenterology, Boca Raton, FL, Clinical Instructor, Florida Atlantic University School of Medicine. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)