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.

Peutz–Jeghers syndrome in dermatology

“…Peutz-Jeghers syndrome is a monogenic hereditary disease with an autosomal dominant type of inheritance. This case differs from the cases described by Matini et al in the absence of a family history of the symptoms and signs of Peutz-Jegers syndrome (8). In connection with the absence of a hereditary history, a new mutation (sporadic case) is likely, which is typical for diseases with an autosomal dominant type of inheritance.…”

Seven-Year Follow-Up of Peutz-Jeghers Syndrome

“…The presented case in this report was of particular interest since there are few reported cases of PJS with long-term follow-up [ 5 ]. We were able to visit the patient annually and trace her medical findings.…”

“…In our patient the colon was the most common site of these polyps and she did not have any sign and symptom of GI disturbance even after 7 years (with 100 polyps). Also Matini reported three cases of PJS without clinical symptoms like abdominal pain and acute or chronic rectal blood loss and with no evidence of gastrointestinal or extragastrointestinal malignancy during 14 years of follow-up [ 5 ].…”

“…Some consider these polyps as premalignant lesions, which should be paid considerable attention and removed by surgery or endoscopy. However, others found out that rate of cancer in these polyps is very low, so periodic endoscopic surveillance is enough [ 5 , 10 , 11 ]. As a limitation in this case report, there was not mutation analysis to find out a defect in the STK11 gene is responsible for the PJS phenotype in this patient.…”

Clinical and Genetic Study of Children With Peutz‐Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation

“…PJS is an autosomal dominant inherited disease. PJS tends to follow a variable clinical course with gastrointestinal, predominantly small intestinal hamartomatous polyposis, intestinal and extraintestinal malignancy, and skin lesions (19). Patients with PJS are at higher risk of cancer and develop more extraintestinal tumors than the general population (20).…”