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

Abstract

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.

Keywords: Cancer; Intestinal Polyposis; Intussusception; Peutz-Jeghers Syndrome; Pigmentation.

Figure 1.. Typical Mucocutaneous Pigmentation in PJS

A: Perioral hyperpigmented lesions in the junior daughter when she was 15, B: The elder daughter when she was 17, C: The father when he was 44.

Figure 2.. The Microscopic Images of Hamartomatous Polyps Without any Evidence of Malignancy in The Gastrointestinal Tract of Patients (H&E × 100)

A: The small bowel polyp in the junior daughter when she was 6, B and D: The esophageal and rectal polyp in the father when he was 35, C: The gastric polyp in the elder daughter when she was 8.