Peutz-Jeghers Syndrome


Peutz-Jeghers Syndrome, Hamartomatous Polyposis, Perioral Lentiginosis, Intestinal Polyposis Cutaneous Pigmentation Syndrome

  • Epidemiology
  1. Prevalence: 1 in 50,000 to 200,000
  2. Autosomal Dominant inheritance
  3. Skin lesions typically lead to diagnosis in childhood
  • Pathophysiology
  1. Mucocutaneous pigmentation (Melanin deposits)
  2. Associated with hamartomatous polyps in Gastrointestinal Tract (cancer risk)
  3. Autosomal Dominant Inherited disorder
    1. Defect in the Serine-Threonine kinase gene (tumor suppressor gene)
    2. Only gene identified is STK11 (LKB1, MIM 602216) on 19p13.3
  1. Prominent pigmented "freckling" of lips with lesions crossing the vermilion border
    1. Hallmark finding
  2. Pigmented spots also seen on:
    1. Buccal mucosa
    2. Face (esp. periorbital)
    3. Fingers
    4. Hands
  • Associated Conditions
  1. Multiple Intestinal Polyps with Colorectal Cancer (and Gastric Cancer) risk
    1. Symptomatic polyps by age 10 to 30 years
  2. Intussusception
    1. Common complication by age 20 years
  • Management
  • Gastrointestinal Cancer Screening
  1. Upper and lower endoscopy, video Capsule Endoscopy starting at age 8 years
    1. If no polyps on initial endoscopy
      1. Repeat upper and lower endoscopy every 3 year starting at age 18 years
    2. If polyps on initial endoscopy
      1. Perform upper and lower endoscopy every 3 years
  2. Polyp management
    1. Remove all polyps during endoscopy
    2. Colectomy if polyps cannot be managed by endoscopy
  • Management
  • Other Cancer Screening
  1. Pancreatic Cancer screening
    1. MRCP or endoscopic Ultrasound every 1-2 years starting at age 30-35 years old
  2. Breast Cancer Screening (women)
    1. Mammogram and Breast MRI every year starting at age 25 years old
  3. Cervical Cancer Screening (women)
    1. Annual Pap Smear starting at age 18-20 years old
  4. Testicular Cancer screening (men)
    1. Annual testicular and scrotal exam starting at age 10 years old