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Updated: Jul 19 2019

Peutz-Jeghers Syndrome

  • Snapshot
    • A 14-year-old girl presents to the emergency room with acute abdominal pain and constipation. An ultrasound reveals a “target sign”, suggesting intussusception. A CT scan confirms this diagnosis. On closer examination, her palms and oral mucosa are spotted with multiple 1-2 mm blue-gray macules. She is scheduled for emergency surgery to decompress the intussusception with follow-up endoscopy as an outpatient.
  • Introduction
    • Inherited syndrome with
      • multiple, nonmalignant hamartomatous polyps in GI tract
      • mucocutaneous hyperpigmentation
    • Genetics
      • autosomal dominant
      • mutation in STK11
        • serine threonine kinase
        • tumor suppressor gene
    • Associated conditions
      • risk for multiple malignancies
  • Presentation
    • Symptoms/physical exam
      • hyperpigmented mucocutaneous macules
        • blue-gray or brown spots
        • most common spots
          • lips and buccal mucosa
          • palms and soles
      • hamartomatous polyps
        • most common in small bowel
        • bowel obstruction
          • intussusception
        • abdominal pain
          • infarction
          • chronic bleeding
        • may be sessile, pedunculated, or lobulated
  • Evaluation
    • Diagnosis with endoscopy
      • histology
        • hamartomas
        • proliferation of smooth muscle into lamina propria
    • Complete blood count
      • iron-deficiency anemia due to blood loss
  • Differential Diagnosis
    • Familial adenomatous polyposis
    • Juvenile polyposis
    • Cowden syndrome
  • Treatment
    • Routine evaluation with cancer screening every 1-2 years
    • Endoscopic resection of polyps
      • if extensive, surgical resection
  • Prognosis, Prevention, and Complications
    • Prognosis
      • high risk of malignant transformation of polyps
      • good with routine screening
    • Complications
      • malignant transformation of macules are rare
      • increased risk of
        • colorectal cancer
        • breast
        • pancreatic
        • stomach
        • gynecologic
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