Peutz-Jegher syndrome - Gastrointestinal oncology

Peutz–Jegher syndrome

Definition

Syndrome characterised by intestinal polyposis and freckling of the lips.

Aetiology

Autosomal dominant inheritance pattern, most cases involve mutations in the PJ gene on chromosome 19.

Clinical features

Patients are found to have mucocutaneous pigmentation characteristically around the mouth, hands and feet. Gastrointestinal hamartomatous polyps are found in the small bowel, colon and stomach.

Complications

Polyps may bleed or cause intussusception, but are not pre-malignant.

Management

Multiple polypectomies may be required, but bowel resection should be avoided.