Peutz-Jeghers syndrome: an account of 3 cases in the same family and a review of the literature [Sindrome di Peutz-Jeghers: osservazioni su 3 casi clinici della stessa famiglia e analisi della letteratura]

Peutz-Jeghers syndrome is a rare autosomal dominant polyposis characterized by mucocutaneous pigmentation, intestinal hamartomas and an increased risk mainly for gastrointestinal and gynaecological cancer. Our interest in this syndrome is due to the observation of three cases in the same family, two of whom presented the classic Peutz-Jeghers syndrome, while the other had perioral pigmentation only. Therefore, the main clinical elements emerge in the two first cases presenting with recurrent abdominal pain and sub-occlusion. The condition was managed by a combination of radiological, endoscopic and surgical procedures which enabled us to map and remove several gastrointestinal polyps. On histopathological examination the polyps were mainly hamartomas, though some presented both hamartomatous and adenomatous features, while others, removed endoscopically during the follow-up, were identified as true adenomas with initial carcinomatous changes. Furthermore, in one case follow-up examination allowed the early diagnosis and treatment of a cervical carcinoma. In agreement with the literature, our experience suggests that simple polypectomy, via an endoscopic and/or surgical approach, is the treatment of choice in Peutz-Jeghers syndrome. However, if gangrene due to invagination or neoplastic change occurs, an intestinal resection is mandatory. Cancer surveillance must be the first aim of follow-up.