The Common Vein Copyright 2008
Peutz-Jeghers syndrome is an autosomal dominant inherited disorder of the intestinal tract characterized by by intestinal hamartomatous polyps associated with mucocutaneous melanocytic macules typically seen around the
The entity is caused by a gene mutation resulting in hamartomas most commonly seen in the small bowel but also in the colon and the stomach, and can be complicated by intestinal intussussception and carcinoma (15 fold increase). Risks of carcinoma in order of relative risk are small bowel, stomach, pancreas, colon, esophagus, ovary, lung and breast.
The diagnosis is suspected clinically when family history of the disease is present, and melanocytic lesions (freckles) seen on the face, around the mouth and on the buccal mucosa. Histologically the polypoid lesions shows proliferation of smooth muscle throughout the polyp.
Imaging includes the use of colonoscopy, small bowel follow through, enetroclysis and videocapsule imaging.
Treatment options depend on the extent of the polyps. If accessible to eneteroscopic polypectomy this should be performed. In patients with intusussception or when malignancy is suspected, surgery is indicated.
The syndrome was first described by Peutz in 1921 who recognized the syndrome in a Dutch family, and further descriptions by Jegher in 1940 helped consolidate the syndrome.
E Medicine Andrea Duchini, MD