Peutz-Jeghers Syndrome is a rare hereditary disease that is characterized by the formation of multiple polyps in the mucous membrane of the small intestine (intestinal polyposis) and the appearance of pigmented areas on the skin and mucous membranes.
The resulting polyps may bleed, causing anemia, or may lead to intestinal obstruction. In addition, polyps may increase the risk of developing malignant tumors of the gastrointestinal tract.
Peutz-Jeghers syndrome is caused by mutations in the STK11/LKB1 gene, which plays an important role in regulating cell growth and division. The disease is inherited according to the principle of autosomal dominant inheritance, that is, a mutation in one of the two STK11/LKB1 genes located on different chromosomes is sufficient to cause the disease.
Symptoms of Peutz-Jeghers syndrome can appear as early as childhood, but most often the disease is diagnosed at the age of 20-30 years. Pigmented areas on the skin and mucous membranes usually appear first and can serve as an important symptom for diagnosing the disease.
To diagnose Peutz-Jeghers syndrome, colonoscopy and radiography are used, which can detect the presence of polyps in the intestines. Genetic testing may also be performed to identify mutations in the STK11/LKB1 gene.
Treatment of Peutz-Jeghers syndrome is aimed at eliminating symptoms and preventing the development of complications. If polyps are detected, they are removed endoscopically or undergo surgery. Regular monitoring by a doctor and screening tests help identify and treat complications at an early stage.
Overall, Peutz-Jeghers syndrome is a rare but serious condition that requires constant monitoring and medical control. Timely diagnosis and treatment can significantly improve the prognosis of the disease and the quality of life of patients.
Peuta-Jeghers Syndrome is a rare hereditary disease that can manifest itself in the form of multiple polyps in the mucous membrane of the small intestine and the appearance of pigment spots on the skin and mucous membranes.
Polyps formed in the intestines with this syndrome can have different sizes and numbers. They can cause bleeding, which leads to anemia, and can lead to intestinal obstruction.
Age spots, which usually appear in childhood, can be located around the lips, on the mucous membrane of the cheeks, on the tongue, as well as on the palms and soles. The color of these spots may be dark brown or blue. They usually do not cause pain or discomfort, but may be cosmetically unpleasant.
Peutz-Jeghers syndrome is caused by a mutation in the STK11 gene, which is located on chromosome 19. This gene is a tumor suppressor and plays an important role in controlling cell growth and development. A mutation in this gene leads to the development of polyps and age spots.
Treatment for Peutz-Jeghers syndrome is aimed at eliminating symptoms and preventing complications. Patients with this syndrome are often advised to have regular screenings to identify polyps and monitor their growth. If polyps are too large or cause complications, they may be removed surgically.
It is also important to monitor the pigmentation of the skin and mucous membranes to identify early signs of cancer development. Patients with this syndrome are advised to avoid smoking and drinking alcohol, and to maintain a healthy lifestyle.
In conclusion, Peutz-Jeghers syndrome is a rare hereditary disease that can lead to the formation of polyps in the intestines and the appearance of age spots on the skin and mucous membranes. Early recognition and control of this syndrome can help prevent complications and improve prognosis.
Peysz-Chaiet syndrome is a congenital malformation of the bile ducts with their complete absence or deformation. ** Peisces syndrome. Peiscen-Scheie syndrome affects mainly girls (the ratio of female to male is 3: 1), having from 2 to 5 polypoid and unappearing spots on the extensor surface of the legs (small freckles), which gradually progresses. If a woman is not examined for 6-12 years, freckles can spread throughout the skin. The syndrome is formed as a result of chronic