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Peutz-Jeghers Syndrome
Aka: Peutz-Jeghers Syndrome, Hamartomatous Polyposis, Perioral Lentiginosis, Intestinal Polyposis Cutaneous Pigmentation Syndrome
- Epidemiology
- Prevalence: 1 in 50,000 to 200,000
- Autosomal Dominant inheritance
- Pathophysiology
- Mucocutaneous pigmentation
- Hamartomatous polyps in Gastrointestinal Tract
- Signs: Oral Lesions
- Prominent pigmented "freckling" of lips
- Pigmented spots also seen on:
- Buccal mucosa
- Face (esp. periorbital)
- Fingers
- Hands
- 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
- 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
- Polyp management
- Remove all polyps during endoscopy
- Colectomy if polyps cannot be managed by endoscopy
- 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
- References
- Wilkins (2018) Am Fam Physician 97(2): 111-6 [PubMed]