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Peutz-Jeghers syndrome

  • 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)