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