Updated: 7/19/2019

Peutz-Jeghers Syndrome

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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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