For the first time about the disease that combines polyposis of the intestine with pigmentation, it was written by Dr. Peitz in 1921.The assumption of her hereditary predisposition was further developed in the works of the doctors Egers and Touraine. Generally referred to as the "Peits-Egersa-Turena syndrome", the disease is characterized by a triplet of symptoms consisting of:
- of multiple polyps in the intestine;
- pigment spots on the skin and mucosa;
- genetic predisposition.
In the development of the Peits-Egers syndrome, the gene factor is fundamental. If one parent has a mutated ST KII gene, in half the cases, he will pass it on to his child. The causes of the mutation of the gene have not yet been studied. Disease Peitz-Jagers are rare, but their danger lies in the fact that in 20% it grows into cancer. Therefore, it is so important to recognize the disease in time and begin treatment.
Symptoms of the Peits-Egers-Turen syndrome
The earliest signs of the syndrome in the form of pigment spots on the skin caused by a hamartoma( benign skin tissue formation) are known at the earliest age. They look like small spots( 1-4 mm) of a bluish-brown color on the face, mucous cheeks and spread to the hands, stomach, chest, around the anus. In the future, the color becomes less intense, almost invisible.
With the development of polyposis, severe abdominal pain, diarrhea, flatulence are noted. With the complicated course of the Peits-Egers syndrome in children, a delay in development and growth is possible. Subjective sensations in this case are absent, and it is possible to establish a diagnosis during research.
The occurrence of polyps in the gastrointestinal tract in the Peitz-Jägers syndrome has not been accurately explained to date. They are localized in different parts of the tract, but more often in the small intestine and about a third of them can be observed in the large intestine. With a large area, the spread of the epithelial cell can also be diagnosed in the duodenum and stomach.
The dimensions of the lesions vary widely and range from a few millimeters to five to six centimeters. Despite the fact that the neoplasms are benign adenomatous type, the presence of hyperchromic nuclei in them and germination of the elements of the built-up through the mucous membrane, allows to consider them as precancerous cells. From the onset of the Peits-Egers syndrome to the appearance of the first signs of degeneration into a malignant tumor, about 25-40 years pass.
Large formations attach to the mucous pedicle and alter the erosive and hyperemic surface. The ramified stroma of a multitude of polyps in the Peitsa-Jegers syndrome consists of a combination of hyperplastic glandular epithelium with muscular plasty of the mucosa. The study of biopsy material showed that neoplasms can be flat and high, with a surface lobate or tuberous.
Their distinctive features are the wrong arrangement of the reconstructed glands. Incorrectness lies in the fact that smooth muscle fibers seem to "break" through the muscular plates of the mucous membrane. In addition to the frequent malignization of the formations, in the case of the Peits-Egers syndrome, intestinal obstruction is often noted. The presence of a hamart in the gastrointestinal tract can cause internal bleeding.
The first manifestations of the Peitz-Egers syndrome are noticeable already in infancy, and sometimes are congenital. These are pigmented spots on the skin and mucous membranes of the mouth. The emerging spots on the borders of the skin and mucous membrane begin to turn pale with age and eventually become invisible, which provokes a non-serious attitude towards the disease.
Pigmented spots of round or oval shape, rarely exceeding three to four millimeters in size, have clear contours and never merge into one large spot. Between them there is always, although small, but the gaps of clean skin. The color of the spots, located on the mucous membranes, differ in a blue-brown hue, while for others they range from yellowish to a rich brown color.
Polyposis is diagnosed at the age of five to thirty years. To prevent undesirable development of transformation into a malignant tumor, children with Peits-Egers syndrome should be under constant supervision and medical supervision. When establishing a biopsy material on the basis of histological examination, the formation of a large number of build-ups or their large size, it is recommended to perform operative removal.
If these neoplasms are many and they are scattered, then a wedge resection of the small or large intestine is performed. Endoscopic polypectomy is performed for single growths. To remove small formations use an endoscope. If the formations are very large and there is a high risk of bleeding, as well as the location of polyps outside the colonoscope, they are removed through the incisions of the intestinal wall( laparotomy).Laparotomy is performed concomitantly with polypectomy and with enteroscopy to completely clean the small intestine from neoplasms for the impossibility of returning intestinal obstruction.
In the case of multiple small lesions on the mucous membrane of the gastrointestinal tract with the gradually developing Peitz-Egers syndrome, there are no unequivocal opinions on the mode of their treatment. However, most researchers believe that the most effective method will be preventive measures, including a sparing diet and drug treatment. Appointed drugs that have an astringent effect, such as tanalbine, bismuth sodium.
Peits-Egers syndrome is a fairly rare disease( 1 case per 250,000 people), but due to the fact that throughout the life of a person there is a high risk of developing different types of cancer, including colorectal, breast and pancreatic cancer andeven lung cancer, this disease requires very close attention. Surveys patients with the Peits-Jagers syndrome should be conducted much more often than healthy people and especially in old age.