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Peutz-Jeghers Syndrome With Diffuse Gastrointestinal Polyposis: Three Cases in a Family With Different Manifestations
Esfandiar Matini1, Hooman Houshangi2, Ehsan Jangholi3
1Department of Pediatrics, Islamic Azad University, Tehran Medical Sciences Branch, Tehran, IR Iran.
Insights
Peutz-Jeghers syndrome (PJS) patients with diffuse polyposis may not show symptoms or develop malignancies. This highlights variability in PJS manifestations across generations.
Area of Science:
- Genetics
- Gastroenterology
- Oncology
Background:
- Peutz-Jeghers syndrome (PJS) is a rare genetic disorder.
- Characterized by mucocutaneous pigmentation, hamartomatous polyposis, and increased cancer risk.
- PJS exhibits variable clinical manifestations within families.
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.
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