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