Syndrome aeors dans
Ehlers-Danlos Syndrome combines a large group of hereditary connective tissue lesions. The first obvious case of this syndrome was first described in 1682 by a surgeon from Amsterdam, who observed a 17-year-old boy who had unusual skin extensibility. Two centuries after the first mention of the Ehlers-Danlos syndrome, in 1891, a Russian researcher AN Chernogubov published a report on two cases of this disease. At the same time, he drew attention to the severe damage to the skin and joints of the observed people and regarded this condition as a genetically conditioned "delay in the whole of the connective tissue".After another 10 years, E. Ehlers, and later X. A. Danlos, noted such a tendency to hemorrhage. Later this disease was named after the names of these two researchers, and this name has been universally accepted to the present day.
Ehlers-Danlos syndrome is one of the most common hereditary connective tissue diseases. It occurs with a frequency of 1 case per 100 LLC of newborns. However, according to other researchers, this syndrome occurs much more often, since many forms of the disease that are not so pronounced( the so-called erased forms) remain unrecognized. According to modern ideas, Ehlers-Danlos syndrome unites a group of diseases, the basis of which is the defect of collagen, which is the basis of connective tissue.
Currently, 11 types of disease are distinguished, which differ in a number of features. External signs of different types of Ehlers-Danlos syndrome are extremely similar. They are manifested by increased extensibility and vulnerability of the skin, increased mobility of the joints and symptoms of hemorrhagic diathesis. In this case, often the defeat of the musculoskeletal system, eyes, cardiovascular and respiratory systems, as well as organs of the gastrointestinal tract.
The main feature of the Ehlers-Danlos syndrome is a change in the properties of the skin, which are manifested by its increased stretchability and easy vulnerability. The skin of such people is thin, fragile, weakly fixed to deeper located tissues. With this disease, the skin can be raised by 1.5-2 cm in those places where it is practically impossible for a healthy person. Such places include the tip of the nose and the ears. With minimal trauma to the skin, "lacerated" wounds easily arise, which heal extremely slowly, ending with the formation of scars with a shiny wrinkled surface( "cigarette" scars).Quite often, after operations, deep extensive scars are also formed. In such cases, surgeons pay attention to the frequent divergence of the joints and compare the skin of the patient with moist blotting paper. In some cases, it may be noted the emergence of "pseudotumours", which are located, as a rule, in places of greatest pressure on the skin. For example, such places are the areas of the knee and elbow joints."Pseudo-tumors" in this case are an accumulation of elements of the destroyed connective tissue and organized by hematomas.
In addition, on the anterior surface of the shins in the Ehlers-Danlos syndrome, it is possible to feel the nodules formed as a result of excessively increased growth of adipose tissue, which is covered with a strong capsule containing calcium in its composition. Such people can develop trophic ulcers, which are mostly located on the skin in the ankle and shin area. Mucous membranes with this disease are characterized by the same changes as the skin. For example, the increased elasticity of the mucous membranes is explained by the fact that some people have the ability to reach the tip of their nose( the symptom of Gorlin).However, this ability is found in half of patients with Ehlers-Danlos syndrome, and in some absolutely healthy individuals.
The next common symptom of the disease under consideration is increased joint mobility, as a result of which people can perform complex acrobatic exercises without prior training. The first manifestations of this ability are usually noted by parents at the end of the first - the beginning of the second year of the child's life, at a time when he begins to walk independently. The consequence of increased mobility of the joints can be repeated dislocations and subluxations of the joints.
Also quite often the Ehlers-Danlos syndrome is accompanied by manifestations of hemorrhagic diathesis. In this case, children easily get bruises and bruises of different localization. Quite typical are bleeding from the gums, the gastrointestinal tract, blood can also appear in the urine, girls often have uterine bleeding.
Often there are eye changes in the Ehlers-Danlos syndrome, which include, first of all, the lower eyelid, strabismus, blue sclera, myopia, and such people can easily turn the upper eyelid.
The VI type of disease is characterized by spontaneous ruptures of eyeballs and retinal detachment.
Some people( not all) with Ehlers-Danlos syndrome have a partial absence of teeth, their irregular formation, anomalous location and a decrease in size. VIII type of disease differs from the others in the frequent development of periodontitis.
The defeat of the musculoskeletal system is manifested in the form of curvature of the spine and various deformations of the chest. Reduction of muscle tone is so pronounced that it is sometimes mistaken for any neuromuscular disease. People easily have a hernia of different localization.
Internal lesions are also very characteristic of Ehlers-Danlos syndrome. The most dangerous of them are damage to the heart, blood vessels and bronchopulmonary system. In the literature there are descriptions of ruptures of blood vessels of multiple aneurysms( aorta, cerebral vessels).The defeat of the heart can consist in the formation of various congenital malformations.
The defeat of the respiratory system consists in increased airiness of the lung tissue, the development of spontaneous pneumothorax, an increase in the size of the trachea and bronchi.
Diagnosis of the Ehlers-Danlos syndrome is based on the analysis of the pedigree and the totality of the above signs of the disease observed precisely in this child. In order to more accurately determine the type of the disease, it is necessary to apply special precise diagnostic methods that are carried out only in specialized hospitals.
Special attention is paid to obstetric and surgical problems, which often occur in patients with Ehlers-Danlos syndrome. Thus, for pregnant women with this disease, there is a real risk of premature discharge of amniotic fluid, postpartum bleeding, discrepancy of the pelvic bones and superimposed sutures or their poor healing. Also, there is a possibility of a prolapse of the uterus during the survival of the pregnancy due to poor fixation of the uterus in the small pelvis by a ligamentous device. Children with Ehlers-Danlos syndrome are often born prematurely due to the fragility of the amniotic membranes, often have congenital dislocation of the hip joints and pseudo-paresis of the brachial nerve. In such cases, obstetricians have certain difficulties in bandaging the umbilical cord.
Treatment for Ehlers-Danlos syndrome should be aimed at normalizing or stabilizing the process in the locomotor system, cardiovascular and central nervous system, skin, muscles and eyes. To this end, a wide range of vitamin preparations( A, E, B group, cocarboxylase, ascorbic acid), carnitine chloride, somatotropic hormone( growth hormone) injections, as well as drugs that improve brain activity( nootropil, pantogam, rutin, riboxin, Panangin).In addition, the necessary method of treating this disease is to conduct physiotherapy procedures, such as magnetotherapy or laser acupuncture. If necessary, the child is given repeated courses of massage and physiotherapy exercises, as well as reflexotherapy. Much attention is paid to the treatment of chronic foci of infection located in the nasopharynx and oral cavity( carious teeth, chronic tonsillitis, adenoids, sinusitis).