What is known about Peutz–Jeghers syndrome (a literature review)

Peutz–Jeghers syndrome (PJS) is an autosomal dominant disease, which in most cases is caused by mutation of the tumor suppressor gene STK11 and is characterized by the development of hamartomatous polyps in the digestive tract and the presence of hyperpigmented spots on the skin and mucous membranes. Late diagnosis of PJS leads to acute intestinal obstruction or bleeding. The aim of the study is to summarize the data and current views on the early diagnosis and treatment of PJS in children and processing information on monitoring of PJS complications. To achieve this goal, we have analyzed the sources of professional literature indexed in scientometric databases for the period 2014–2024. The analysis of the professional literature has shown that the triad is characteristic for PJS diagnosis: pigmented spots on the skin and oral mucosa, digestive tract polyposis, and heredity. The timing of symptom onset is an important aspect that requires further study of the clinical course and prognosis of the disease. Conclusions. Phenotypic suspicion involves the formation of risk groups using extraintestinal signs – pigmentation of the mucous membranes and lips – an early visual symptom that makes it possible to recognize PJS, prescribing timely examination and treatment long before the onset of complications. Dynamic observation and prevention of complications in risk groups – both in the presence of a family history and in newly diagnosed children with polyps and specific pigmentation should be provided. The main method of PJS diagnosis is endoscopic, and the main treatment is surgical.