Syndrome characterised by intestinal polyposis and freckling of the lips.
Autosomal dominant inheritance pattern, most cases involve mutations in the PJ gene on chromosome 19.
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.
Polyps may bleed or cause intussusception, but are not pre-malignant.
Multiple polypectomies may be required, but bowel resection should be avoided.