Peutz-Jeghers-Turen syndrome.

Peutz-Jeghers-Touraine syndrome was first described by J. Hutchinson in 1896. A more detailed description was given by F. L. A. Peutz in 1921 based on the observation of three family members who had facial pigmentation combined with intestinal polyposis. He suggested a hereditary nature of the disease. In 1941, A. Touraine reported on this syndrome and called this symptom complex Lentigo poliposis. H. Jeghers et al. in 1949 described 10 cases of this disorder and emphasized the characteristic triad: gastrointestinal polyposis, hereditary nature of the disease, pigment spots on the skin and mucous membranes. Since then, this disorder has been described as Peutz-Jeghers-Touraine syndrome.

In the domestic literature, the first reports of Peutz-Jeghers-Touraine syndrome date back to 1960. In 1965,

Peutz-Jeghers-Touraine syndrome is found on all continents. Women are slightly more often affected than men. The fact that the syndrome occurs in several members of one family is evidence of its hereditary genesis. Inheritance is autosomal dominant. Thus, Defort and Lil reported observation of a family of 107 people, 20 of whom had Peutz-Jeghers-Touraine syndrome. According to many researchers, the hereditary transmission of the syndrome is due to the dominant gene and can be transmitted both through the male and female lines. Sometimes the dominant gene does not transmit the pathological transformation completely, so polyposis of the gastrointestinal tract without pigment spots occurs, and vice versa.

Pathomorphology

Histological examination of pigment spots revealed excessive melanin content in the basal layer of the epidermis and mucous membrane, which is located in vertical cylindrical columns. Melanin granules are found in large quantities in the superficial cells of the epidermis without proliferation of the latter's cells. This pigmentation is inconstant, appears at birth or in childhood and may disappear or decrease during the patient's life, which was also noted in our patient. After removal of gastrointestinal polyps, pigmentation sometimes decreases. Malignancy of pigment spots in this syndrome has not been described. Many consider pigmentation to be neuroectodermal dysplasia. Hair loss and dystrophic changes in the nail plates, which are relatively common in these patients, may also be associated with this.

The second cardinal, but often very formidable (if complications arise) sign of this syndrome is generalized polyposis of the gastrointestinal tract, which develops most often between the ages of 5 and 30. Polyps can be of different sizes: from a pinhead to 2-3 cm in diameter and more. In structure, they are adenomas located on a wide base or on a long narrow stalk, have a glandular structure, the shape of cauliflower, contain pigment - melanin, sometimes - smooth muscle fibers.

Polyps are found in all parts of the gastrointestinal tract. Most often, polyposis affects the small intestine, then the large intestine, stomach, duodenum and appendix. There are isolated cases with polyposis not only in the gastrointestinal tract, but also in the urinary bladder and on the mucous membrane of the bronchi.

Symptoms of Peutz-Jeghers-Touraine syndrome

The most noticeable external manifestation of the disease is pigment spots (lentigo) found on the skin and mucous membranes. These are small spots of a round or oval shape, 1-2 to 3-4 mm in diameter, 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 tint. 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 of the forearm, hands, skin of the abdomen, chest, palms, sometimes around the anus, on the skin of the external genitalia. Pigment spots differ from ordinary freckles, which are paler and usually have a seasonal character.

Often the disease is asymptomatic for a long time; sometimes it manifests itself with periodically occurring cramping abdominal pain, patients are bothered by general weakness, dyspeptic symptoms, diarrhea, rumbling in the abdomen, flatulence.

The course and complications of Peutz-Jeghers-Touraine syndrome

In some cases, multiple polyposis of the gastrointestinal tract does not manifest itself for a long time. However, it is often complicated by severe gastrointestinal bleeding, leading to anemia, intestinal intussusception, obstructive obstruction (large polyp), requiring surgical intervention. In some cases, the same patient has to resort to multiple surgeries. When polyps ulcerate, the disease acquires some similarity in symptoms to peptic ulcer disease. Removal of polyps does not guarantee against subsequent surgical interventions, since polyps can appear in other parts of the gastrointestinal tract.

In addition to scientific interest, knowledge of this syndrome will help the doctor to make a correct and timely diagnosis. When Peutz-Jeghers-Touraine syndrome is detected, it is necessary to examine all relatives of the patient, which will allow identifying asymptomatic cases of this family suffering, to make a timely diagnosis and, if complications arise (intestinal obstruction, gastrointestinal bleeding), to have an idea of their causes with a certain degree of confidence. This will undoubtedly improve the prognosis of this disease.

Treatment of Peutz-Jeghers-Touraine syndrome

Patients with Peutz-Jeghers-Touraine syndrome and their relatives should be monitored at a dispensary with periodic (1-2 times a year) X-ray examination, which will allow monitoring the growth of polyps. In case of single large polyps of the gastrointestinal tract, it is necessary to resort to surgical intervention or endoscopic electro- or laser coagulation, without waiting for complications to arise. In case of multiple polyps, prevention of complications, apparently, should be reduced to a gentle diet, moderate limitation of physical activity, periodic oral administration of medications with a local astringent effect (bismuth nitrate basic, tannalbin, etc.) in order to prevent ulceration of polyps and bleeding. It is possible to remove polyps step-by-step (in several stages) using timely endoscopic equipment. Genetic counseling is of great importance when young people enter into marriage and intend to have children.

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