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Peutz-Jeghers Syndrome

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

Epidemiology

Prevalence: 1 in 50,000 to 200,000
Autosomal Dominant inheritance
Skin lesions typically lead to diagnosis in childhood

Pathophysiology

Mucocutaneous pigmentation (Melanin deposits)
Associated with hamartomatous polyps in Gastrointestinal Tract (cancer risk)
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

Signs
Oral Lesions

Prominent pigmented "freckling" of lips with lesions crossing the vermilion border
1. Hallmark finding
Pigmented spots also seen on:
1. Buccal mucosa
2. Face (esp. periorbital)
3. Fingers
4. Hands

Associated Conditions

Multiple Intestinal Polyps with Colorectal Cancer (and Gastric Cancer) risk
1. Symptomatic polyps by age 10 to 30 years
Intussusception
1. Common complication by age 20 years

Management
Gastrointestinal Cancer Screening

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
Polyp management
1. Remove all polyps during endoscopy
2. Colectomy if polyps cannot be managed by endoscopy

Management
Other Cancer Screening

Pancreatic Cancer screening
1. MRCP or endoscopic Ultrasound every 1-2 years starting at age 30-35 years old
Breast Cancer Screening (women)
1. Mammogram and Breast MRI every year starting at age 25 years old
Cervical Cancer Screening (women)
1. Annual Pap Smear starting at age 18-20 years old
Testicular Cancer screening (men)
1. Annual testicular and scrotal exam starting at age 10 years old

References