Peutz-Jeghers syndrome: a rare condition

Peutz-Jeghers syndrome is a rare inherited condition characterized by hamartomatous gastrointestinal (GI) polyposis and mucocutaneous pigmentation. Most patients depict distinctive clinical signs, with episodes of gastrointestinal bleeding or polyp-induced bowel obstruction. The authors report a clinical case with typical features diagnosed before complication’s development. The patient had high surgical risk as a result of previous adolescent surgery. There were completely eliminated 14 polyps of upper and lower GI measuring up to 6 cm (in cecum) by repeated endoscopic interventions. Thus, prophylaxis of intestinal neoplasms was achieved. With a wide range of additional tests the presence of extra-GI tumours was excluded. An accurate screening mechanism for follow-up in the future was elaborated. Major therapeutic problems of the syndrome are the following complications which require urgent surgery: bleeding, obstruction and intussusceptions. Patients with Peutz-Jeghers syndrome have an increased risk of a number of epithelial malignancies. In conclusion, modern knowledge of the chromosome testing, laboratory, endoscopy and other examinations enables reducing the need of unnecessary laparotomies and postoperative complications. The genetically determined association of the syndrome with numerous neoplasms requires an adequate screening mechanism for prevention of tumour development.