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Background: Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the growth of hamartomatous polyps in the gastrointestinal tract, perioral pigmentation and an increased risk of malignant neoplasms. The syndrome is caused by a pathogenic variant in the STK11 gene., Aim: To assess the clinical picture and treatment of Russian patients with PJS., Materials and Methods: A retrospective analysis of 30 patients from 25 families with an established diagnosis of PJS who were in the Ryzikh State Scientific Center for Coloproctology from 2011 to 2021 was carried out. All patients underwent instrumental examination, including esophagogastroduodenoscopy, colonoscopy, X-ray examination of the small intestine/CT-enterography, in the absence of invaginates - video capsule endoscopy, as well as molecular genetic examination for the presence of pathogenic variants in the STK11 gene. All removed polyps were subjected to the histological examination., Results: The analysis of the clinical picture allowed us to establish the following data: the first complaints in patients were noted in childhood and adolescence, while the median age was 11 [7; 19] (0.5-24) years; pathogenic variants in the STK11 gene were identified in 26 (87%) cases, among which 10 were described for the first time; during the initial examination, polyps in the small intestine were detected in all 30 (100%) patients, in the stomach - in 23/30 (77%) patients, and in the colon - in 21/30 (70%); with an age, an increase in the number of polyps in all parts of the gastrointestinal tract was noted; before the diagnosis operations were performed urgently for intestinal obstruction; after the diagnosis of PJS, when polyps were detected in the gastrointestinal tract, endoscopic polypectomies were performed; if endoscopic removal of hamartomatous polyps was impossible, patients were operated as planned; malignant diseases of the predominantly reproductive system were detected in 8/30 (27%) patients. The median age of cancer detection was 52 [31; 52] (17-59) years., Conclusion: Russian patients with PJS have population-specific features in the clinical picture of the course of the disease, which dictates the need to develop their own recommendations for monitoring and treatment of such patients.

It was done 192 double-ballon enteroscopies in 141 patients at the period from March 2009 to March 2012. Epithelial benign tumors were detected in 10 (7.1%) patients with congenital polypoid syndromes. Endoscopic excision of polyps was done in 6 patients including 1 case with laparoscopic-assisted technique. Urgent open surgeries were performed before this in 4 patients with Peutz-Jeghers' syndrome and invaginated small bowel obstruction. The authors consider that double-ballon enteroscopy is highly informative diagnostic and treatment method in case of small bowel diseases. It allows to diagnose and to treat epithelial tumors on the early stage. Also it could help to avoid complications development and disability of patients.

Out of 3243 patients with gastric polips, polyposis was diagnosed in 298 ones including 135 cases of complicated and 163 cases of uncomplicated forms. Hyperplastic polips were diagnosed in 281 patients. Along with hyperplastic polyps, solitary adenomas were diagnosed in 9 cases, Peitz-Jegerc polyps - in 6, and juvenile polyps - in 2. Polypectomy was performed in 153 patients: partial - in 104, and total - in 49. Follow-up was carried out in 98 non-operated patients, indications for endoscopic surgery were seen in 18 cases. After partial endoscopic polypectomy, repolypectomy was performed in 24 cases: single - in 8, multiple - in 16. Repeated endoscopic treatment after total polypectomy was performed in 3 patients. There were no cases of polyp transformation into cancer. Open surgical treatment was not performed. There were no severe complications after endoscopic treatment.

The paper presents the results of studies of the small bowel in 9 patients with the Peutz-Jeghers syndrome. The indications for the study were the clinical picture of gastrointestinal bleeding and the symptoms of ileus. The author's intubation enterographic procedure using the better composition of barium suspension and an infusion system for administering contract substances into the small bowel, an improved fractional contrasting procedure, and a procedure employing the agent Entero-view was applied for contrasting the small bowel. All the procedures revealed an obvious picture of polyposis of the small bowel. The minimum size of detected tumors was 0.3-0.4 cm in diameter. Emphasis is laid on the quantitative image of neoplasms with Entero-view and the therapeutic effect of intubation enterography in evolving small-small intestinal intussusception.

A 60-year-old male patients with an extremely rare condition, Laugier's disease (idiopathic lenticular pigmentation of buccal and labial mucosa) is described. The clinical picture of the disease is presented, as are results of examination and differential diagnosis of the dermatosis. Possible predisposing (dark skin integument, quite a number of pigmented nevi) and provoking (chronic and acute insolation) factors may be important in elucidating the disease origin.