The Peitsa-Jegers-Turena Syndrome

The Peitz-Jägers-Turen syndrome was first described by J. Hutchinson in 1896. A more detailed description was given by FLA Peutz in 1921 on the basis of observation of 3 members of the family whose face pigmentation was combined with intestinal polyposis. He suggested the hereditary nature of the disease. In 1941, A. Touraine's report on this syndrome appeared in the literature, which called this symptom complex Lentigo poliposis. H. Jeghers et al. In 1949 described 10 cases of this suffering and emphasized the characteristic triad: polyposis of the gastrointestinal tract, hereditary nature of the disease, pigment spots on the skin and mucous membranes. Since then, this suffering has been described as the Peits-Egers-Turen syndrome.

In the domestic literature the first reports on the Peitsa-Jegers-Turen syndrome date back to 1960. In 1965

The Peits-Egersa-Turena syndrome is found on all continents. Women are sick more often than men. The fact that the syndrome occurs in several members of the same family, testifies in favor of his hereditary genesis. Inheritance by autosomal dominant type. So, Defort and Lil reported the observation of a family of 107 people, among whom 20 were with the Peits-Egers-Turen syndrome. According to many researchers, the inherited transmission of the syndrome is due to the dominant gene and can be transmitted both in the male and in the female line. Sometimes the dominant gene transmits the pathological transformation not completely, so there is polyposis of the gastrointestinal tract without pigment spots, and vice versa.

Pathomorphology

When histological examination of pigmented spots, the excessive content of melanin in the basal layer of the epidermis and mucosa is established, which is located by vertical cylindrical columns. Melanin granules are found in large numbers in the surface cells of the epidermis without proliferation of cells of the latter. This pigmentation is fickle, appears at birth or in childhood and during the life of the patient can disappear or decrease, which was noted in our patient. After removal of polyps of the gastrointestinal tract, the pigmentation sometimes decreases. Malignancy of pigment spots with this syndrome is not described. Many consider pigmentation as neuroectodermal dysplasia. This can also be associated with hair loss and dystrophic changes in nail plates, which are relatively common in these patients.

The second cardinal, but often very formidable (in the event of complications) symptom of this syndrome is the generalized polyposis of the gastrointestinal tract, which develops most often between the 5th and 30th years of life of patients. Polyps are of various magnitude; with a pinhead up to 2-3 cm in diameter and larger. In structure they are adenomas located on a wide base or on a long narrow leg, have a glandular structure, the shape of cauliflower, contain a pigment - melanin, sometimes - smooth muscle fibers.

Polyps are found in all parts of the gastrointestinal tract. Most often, the polyposis affects the small intestine, then the thick, the stomach, the duodenum and the appendix. Single cases are described with the presence of polyposis not only in the gastrointestinal tract, but also in the bladder and bronchial mucosa.

Symptoms of the Peits-Jerus-Turen syndrome

The most noticeable external manifestation of the disease is the pigment spots (lentigo), found on the skin and mucous membranes. These are small specks of round or oval shape, ranging from 1-2 to 3-4 mm, not protruding above the surface of the skin and mucous membranes, clearly delimited from each other by areas of healthy skin. Their color on the skin is from brownish-yellow to brown and dark brown. On the red border of the lips, the mucous membrane of the gums, cheeks, nasopharynx, sclera, tongue their color acquires a bluish-brown color. On the skin of the face they are localized mainly around the mouth, nostrils, eyes, less often on the chin, forehead; in some patients, pigmentation covers the back surface of the forearm, hands, skin of the abdomen, chest, palms, sometimes - around the anus, on the skin of the external genitalia. Pigmented spots differ from normal freckles, which are paler and usually have a seasonal character.

Often the disease for a long time is asymptomatic; sometimes manifests periodically arising pains in the abdominal cramp character, patients are disturbed by general weakness, dyspeptic phenomena, diarrhea, rumbling in the abdomen, flatulence.

The course and complications of the Peitz-Jägers-Turen syndrome

In some cases, multiple polyposis of the gastrointestinal tract for a long time does not show itself. However, it is more often complicated by severe gastrointestinal bleeding leading to anemia, intussusception, obturation obstruction (large polyp), requiring surgical intervention. In some cases, the same patient often has to resort to surgery. When ulceration of polyps, the disease acquires some resemblance to peptic ulcer on symptoms. Removal of polyps does not guarantee subsequent surgical interventions, as polyps can appear in other parts of the gastrointestinal tract.

In addition to scientific interest, knowledge of this syndrome will help the doctor correctly and timely diagnose. With the detection of the Peits-Egers-Turen syndrome, it is necessary to examine all the relatives of the patient, which will allow to identify asymptomatically occurring cases of this family suffering, timely diagnose and with the occurrence of complications (intestinal obstruction, gastrointestinal bleeding) with a certain degree of certainty about their causes. This, of course, will improve the prognosis of this disease.

Treatment of the Peitz-Jägers-Turen syndrome

Patients with Peits-Egersa-Turena syndrome and their relatives should be on dispensary with periodic (1-2 times a year) X-ray examination, which will control the growth of polyps. For single large polyps of the gastrointestinal tract, surgical intervention or endoscopic electro- or laser coagulation should be used, without waiting for complications. In the case of multiple polyps, prevention of complications, apparently, should be reduced to a sparing diet, moderate restriction of physical activity, periodic ingestion of medications that have a local astringent effect (bismuth nitrate base, tanalbine, etc.) in order to prevent ulceration of polyps and bleeding. Perhaps a phased (in several receptions) removal of polyps with the help of timely endoscopic technique. Of great importance is genetic counseling when young people enter into marriage and the intention to have children.

If complications arise - gastrointestinal bleeding, obstructive bowel obstruction - urgent hospitalization is necessary in the surgical departments.