Peutz-Jeghers Syndrome With Diffuse Gastrointestinal Polyposis: Three Cases in a Family With Different Manifestations and No Evidence of Malignancy During 14 Years Follow Up
نویسندگان
1 Department of Pediatrics, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran
2 Department of Clinical Pathology, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran
3 Department of Medicine, Students’ Research Committee, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran
4 Department of Gastroenterology, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran
5 Young Researchers and Elite Club, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran
6 Department of Medicine, Students’ Research Committee, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran
doi
10.5812/ircmj.19271چکیده
Introduction: Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by mucocutaneous perioral pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk of malignancy. Families with PJS may show a variable spectrum of manifestations in spite of their consecutive generations. A probable explanation is novel mutations in contributing genes.Case Presentation: This report describes 3 cases of a family. Two daughters presented the classic PJS, while their father only manifested mucocutaneous perioral pigmentation. The junior daughter was underwent 3 and the eldest daughter 2 laparotomies for intussusception. The patients were visited annually and their medical findings were recorded during a follow-up period of 14 years. They were periodically examined in our hospital and despite conveying diffuse polyposis from the esophagus throughout the rectum in these three cases, even a simple hyperplasia was not found in obtained specimens.Conclusions: The patients with diffuse PJS may be asymptomatic and without gastrointestinal or extragastrointestinal malignancies.
