What is melanotic polyp syndrome? As early as 1921, Peutz, a Dutch scholar, found that there was a close connection between the melanotic spots on the skin mucosa and gastrointestinal polyps in this group of patients. In 1949, Jeghers proposed that the disease was an autosomal dominant disorder, and it was not until 1954 that academics officially began to use the name “Peutz-Jeghers syndrome (PJS)” for the syndrome. What symptoms do patients with melanotic polyp syndrome experience? The main symptoms are unexplained abdominal pain and blood in the stool. The abdominal pain is intermittent colic, often located around the umbilicus, of variable duration, relieved by exhaustion, and may persist repeatedly for several years. Due to the growth of polyps, it may also cause intestinal overturning and intestinal obstruction, and in serious cases, it may also cause intestinal necrosis. Due to the massive bleeding of polyps, acute gastrointestinal bleeding may occur, causing anemia in patients. What are the clinical characteristics of dark spot polyp syndrome? 1.Black spots on the mouth and lips: the most distinctive feature of the disease is black spots on the mouth and lips. The melanin spots can appear in childhood or infancy, and the color is darkest in adolescence, and becomes lighter after middle age, but the pigment of the buccal mucosa generally persists. The dark spots are round or oval in shape and do not rise above the skin surface, do not fade with pressure, and have no hair growth. The distribution is mostly seen in the lips, gums, cheek mucosa, face around the mouth, nose and eyes, finger and toe palm surface, the labia and glans can also have melanin deposition. 2, gastrointestinal polyps: polyps can occur in any part of the gastrointestinal tract, but most common in the small intestine, followed by the colon, rectum, stomach, very few cases can be seen in the biliary tract, urinary tract, uterus, etc.. The number of polyps varies from several to a hundred, with or without a tip, smooth surface, and can be sankan-shaped or lobulated. What tests are needed for patients with melanotic polyp syndrome? Gastroscopy, colonoscopy, barium meal gastrointestinal imaging or abdominopelvic CT can detect gastric and colonic polyps, but direct gastroscopy has a much higher polyp detection rate than barium meal gastrointestinal imaging and CT due to its unique advantages, and can also perform tissue biopsy of polyps during endoscopy for further pathological examination to clarify the diagnosis. For small intestine polyps, which are the most common at the site of development, the polyp detection rate and sensitivity and specificity of traditional examination methods have been low. In recent years, with the development of electronic small intestine microscopy technology, the entire small intestine can be observed through electronic small intestine microscopy, and treatment such as endoscopic removal of polyps can be performed. In addition, capsule endoscopy can examine the whole gastrointestinal tract and has the advantages of being painless, simple, and easy to operate, which is expected to become the preferred screening tool for small bowel lesions of melanotic polyp syndrome. How to diagnose melanotic polyp syndrome? The clinical diagnosis of melanotic polyp syndrome requires histological confirmation of gastrointestinal malformations or two of the following three clinical manifestations: (1) family history of melanotic polyp syndrome; (2) multiple gastrointestinal polyps; (3) pigmented skin mucosa. When available, genetic tests can be performed to further confirm the diagnosis. Can melanotic polyp syndrome become cancerous? Previously, it was thought that gastrointestinal polyps were misshapen tumors, not precancerous, and there was no possibility of malignant transformation; however, a lot of studies have shown that patients with melanotic polyp syndrome are typical of the population with high incidence of malignant tumors, with a tumor incidence rate of about 23%, and the common tumors in order of incidence are colorectal cancer, gastric cancer, small intestine cancer, cervical cancer and ovarian cancer, osteosarcoma, pancreatic head cancer, bile duct cancer, breast cancer, lung cancer and so on. The age of onset is young, with an average of 32.2 years, and the tumor differentiation is low, and the prognosis of patients is poor. Therefore, clinicians should pay enough attention to this disease, closely follow up and treat gastrointestinal polyps, detect malignant tumors in and outside the intestine as early as possible, intervene as early as possible, and improve patients’ prognosis. How to treat melanotic polyp syndrome? Because of the high risk of cancer of polyps in this disease and the fact that gastrointestinal polyps can also lead to intussusception or cause intestinal obstruction, early intervention should be made once the diagnosis is clear. At present, endoscopic treatment of gastrointestinal polyps in nigrostriatal polyp syndrome has been widely used in clinical practice, and endoscopic removal of polyps is the treatment of choice for this disease. Endoscopic polypectomy has the advantages of less trauma, faster recovery, fewer complications, and repeated treatment. According to the size and shape of polyps, they can be removed by argon ion coagulation, high-frequency electrocautery, electrocoagulation and electrosurgery. For the high prevalence of polyps, the small intestine has been the weak link of examination and treatment. In recent years, with the invention and application of small intestinal microscopy technology, the removal of small intestinal polyps under small intestinal microscopy has been realized nowadays, which avoids the pain caused by multiple surgical procedures and reduces the chance of open surgery for patients. Surgical treatment is mostly performed in cases of acute surgical complications, and should be considered in cases of complicated intussusception or intestinal obstruction, acute and chronic bleeding in the gastrointestinal tract, polyps with large diameter that may cause intestinal obstruction and cannot be removed by endoscopy, dense polyps in the small intestine, and suspected cancer. Since the purpose of surgery is mainly to solve the clinical symptoms rather than to cure the disease, the length of the intestinal canal should be preserved as much as possible during the surgery. How should patients with melanotic polyp syndrome be followed up? For patients with family history or already diagnosed, gastroscopy, colonoscopy, small intestinal microscopy and whole gastrointestinal barium angiography should be performed as much as possible to completely exclude polyps in the digestive tract. Starting from the age of 10, gastroscopy, colonoscopy and whole gastrointestinal barium meal should be performed once every 2 years, and small intestinal microscopy or capsule endoscopy should be performed if available. For patients with few polyps, annual endoscopy is required after the GI polyps are cleared, while for patients with multiple polyps, which are not completely cleared, endoscopic review is required every 6 months until the polyps are completely cleared, and then endoscopic review is required once a year. Ultrasound and CT examinations for abdominal organs such as liver and pancreas are performed from the age of 30. For female patients, mammography should be performed every 2 years starting at age 20 and cervical smear once a year. Male patients should have their testicles examined from the age of 10 to understand the reproductive system.