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

作者：Matini Esfandiar; Houshangi Hooman; Jangholi Ehsan^*; Azad Pantea Farjad; Najibpour Reza; Farzhad Ali

来源：Iranian Red Crescent Medical Journal, 2015, 17(12): e19271.

DOI：10.5812/ircmj.19271

• Peutz-Jeghers Syndrome
• Cancer
• Intestinal Polyposis
• Intussusception
• Pigmentation

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.

• 出版日期2015-12