Peutz-Jeghers syndrome

Alternative names:

familial adenomatous polyposis

Symptoms:

• a family history of Peutz-Jeghers syndrome
• dark freckles on and around the lips of a newborn
• pigmented spots on the lips, gums and mucous membranes of the mouth
• crampy abdominal pain, vomiting
• occasional gross blood in the stool

Signs and tests:

• occult blood in stool (see stool guaiac)
• intestinal polyposis
• intussusception
• clubbing (possibly present, etiology unknown), exostoses

Tests

• X-ray of abdomen - that shows polyposis
• stool for occult blood
• CBC
• serum iron
• serum, total iron binding capacity, TIBC
• biopsy - polyps