Peutz-Jeghers syndrome

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Digestive system organs

• A family history of Peutz-Jeghers syndrome
• Dark freckles on and around the lips of a newborn
• Brownish or bluish-gray pigmented spots on the lips, gums and inner lining of the mouth
• Crampy abdominal pain, vomiting
• Occasional visible blood in the stool

• Intestinal polyps
• Intussusception (part of the intestine folds in on itself)
• Clubbed fingers or toes
• Exostoses (benign tumors in the ear)
• Anemia

Tests

• Genetic testing
• X-ray of abdomen to detect intestinal polyps
• Stool guaiac (a test for blood in the stool)
• Complete blood count (CBC)
• Total iron-binding capacity (TIBC) (a blood test)
• Polyps biopsy (colonoscopy or flexible sigmoidoscopy)

Review Date: 01/23/2006
Reviewed By: Jenifer K. Lehrer, MD, Department of Gastroenterology, Frankford-Torresdale Hospital, Jefferson Health System, Philadelphia, PA. Review provided by VeriMed Healthcare Network.