What is the Bullous Epidermolysis Disease Group?
This group of pathologies, united under the general name of diseases of bullous epidermolysis, includes several different forms of the disease. However, some scientists tend to consider them completely independent diseases.
Pathogenesis during the Group of Diseases of Bullous Epidermolysis
The entire group of the described diseases is based on the appearance on the skin and on the mucous membranes of lesions in the form of blisters. At the same time, there are no inflammatory changes, since, despite these manifestations, these diseases are not infectious. Bubbles never occur on their own, most often their appearance is preceded by any irritating effect on the skin, usually in the form of friction or trauma. It is impossible to say exactly how common this pathology is among children, but it is known that it occurs among the population of the entire globe.
Despite the large number of different forms of pathology, all of them can be included in a fairly simple short classification:
- simple bullous epidermolysis;
- dystrophic epidermolysis, which includes two main subspecies:
– hyperplastic;
– polydystrophic.
Symptoms of the Bullous Epidermolysis Disease Group
Simple bullous epidermolysis
Most often, the disease develops directly from the first days of a child’s life. However, in the literature, cases of the appearance of symptoms and at a later age are described. Thin-wall blisters appear on the patient’s skin. Their sizes are different – from peas to walnuts, larger ones are somewhat less common. They are filled with an aqueous liquid, when pressed on them, the patient experiences quite noticeable pain. If the bubble is opened, then after the outflow of fluid from it, the pain subsides, pretty soon complete healing begins. It is quite clear that basically these rashes are located on the skin in those places that are constantly exposed to mechanical influences – elbows, knees, ankles, hands, feet, buttocks. Another exacerbation of the pathological process always occurs in the summer, after the patient takes a warm bath. Self-improvement is noted in the winter and during puberty. More often boys are amazed. In general, the manifestations of the disease are found only on the skin, however, in some patients, the process can also extend to the mucous membranes, genitals. On the mucous membranes at the sites of injury, the same bubbles form as on the skin, but they are very tense. After emptying the bladder, a mucous membrane defect forms, which quickly heals. Scars never form. The patient can only experience for some time a feeling of itching and burning in those places where the bubbles were located. Nails, teeth and hair are never affected.
Summer bullous epidermolysis (Weber-Coccain syndrome)
Summer bullous epidermolysis (Weber-Coccain syndrome) is a special kind of epidermolysis. The beginning falls on the period of childhood or adolescence. Bubbles on the skin are formed after trauma to it or a patient’s prolonged exposure to high temperature. Provoking factors are walking, warm shoes, staying at resorts in countries with hot climates. The lesions are mainly located in the area of the hands and feet. Very often in such patients, excessive sweating of the palms and soles is detected.
Dystrophic bullous epidermolysis
As already mentioned above, this pathology can occur in three slightly different forms from each other – hyperplastic, albopapuloid and polydysplastic.
The hyperplastic form occurs immediately after the birth of the baby, during the period of breastfeeding, or somewhat later, but certainly in childhood. As with other types of epidermolysis, the disease manifests itself in the form of skin blisters that occur after the injury. Most often they are located in the extensor surfaces of the joints on the arms and legs, in the area of the hands, feet, buttocks. Often there is a thickening of the stratum corneum of the skin on the soles and hands, as well as a thickening of the nails, increased sweating. In a fifth of all patients there is a lesion of the mucous membranes, genitals, conjunctiva. With this arrangement, the bubbles open quite quickly, defects are formed in their place, which subsequently heal poorly and for a long time. Bubbles on the skin after opening leave rough scars that are difficult to surgical treatment. Scars with tissue atrophy form on the mucous membranes. Often because of this, deformation of the tongue occurs, as a result of which the patient’s speech is severely disturbed, food intake becomes difficult. The hyperplastic variety of the disease is often accompanied by tooth damage, excessive hair growth, impaired shape and structure of the nails. Often, such patients have ichthyosis at the same time. Despite this, the disease as a whole proceeds quite favorably, exacerbations can occur in the summer, especially during the heat. In winter, various conditions associated with exposure to the body at elevated temperatures, for example, taking hot baths, wearing too warm clothes and shoes, can lead to exacerbations.
Albopapuloid form of epidermolysis
The disease is inherited by an autosomal dominant principle. All carriers of the pathological gene are diseased. The first signs occur immediately after the birth of the baby or during the first two months of life. The period of the greatest heat of symptoms occurs up to 2 years of age.
Skin elements in the form of blisters are most often located in the arms and legs, but sometimes they can also appear on the body. Most often, this is the lumbosacral region, buttocks, and shoulders. After healing, rough scars and cavities inside the skin remain in the places of the blisters. The mucous membranes are affected to a very small extent, mainly in the mouth. Bubbles here do not arise in all cases of the disease. Instead of bubbles, very small bubbles or the same small cavities more often form here, which upon examination are very easy to notice, since they have a significantly paler color compared to neighboring areas. In the places of all these elements subsequently remain defects in the mucous membrane, which quickly quite completely disappear without a trace. There are almost always violations of the nails of the hands and feet, which in some cases may be completely absent. The increased dryness of the skin, blueness in the areas of the fingertips, nose, ears. In this case, the patient does not present the doctor absolutely no complaints, since his general condition practically does not suffer in any way. With the onset of puberty, the bubbles in most patients disappear on their own, and small pale skin elevations remain in their places. In some children, recovery is observed even earlier. In the future, these formations begin to increase in size, acquire the color of ivory. They merge with each other, resulting in the formation of very large plaques on the skin of the patient. Their contours remain fairly clear, so when examining a patient they are quite easy to identify.
Polydysplastic bullous epidermolysis
Polydysplastic bullous epidermolysis is a rarer form of the disease than the above. This is one of the most severe forms of pathology. The beginning of its development occurs directly at the time of the birth of the child.
Unlike other forms of epidermolysis, blisters with this species can develop on the skin not only as a result of traumatic factors, but also by themselves. They are filled with bloody fluid, some may contain a clear liquid. Bubbles are located not only in places favorite for epidermolysis (elbows, knees, feet, hands), but also throughout the patient’s body. Almost always, the lesion also captures the mucous membranes of the mouth and esophagus, pharynx. It is here that foci appear that arise after the first application of the child to the mother’s chest. Bubbles with a characteristic appearance appear on the mucous membranes, after opening which very rough scars remain. Most often they are located on the tongue, and from there they pass to the cheeks, which sharply limits the child’s opening of the mouth, disrupts feeding processes. Often in the places of localization of scars on the mucous membranes there are foci of keratinization, which normally never form. Numerous and small nodules can sometimes occur. If all of the above elements develop, then in their place in the future all new bubbles form, containing blood and covered with peculiar films. Then a plaque formed from the remnants of the bubbles and these films remains at these places. After removing the plaque with a spatula, a painful bleeding skin defect is detected, sometimes even in the form of an ulcer. In turn, the scars that occur in their places further contribute to a violation of the mobility of the child’s tongue. A phenomenon is emerging that is called a vicious circle in medical practice. On the mucous membrane of the cheeks, areas appear that have a significantly paler color compared to those around them. The pathological process almost always captures the larynx, pharynx and esophagus. As a result, the voice of a sick child becomes quiet, hoarse, hoarse. Very large defects in the form of erosion are formed on the walls of the esophagus and sometimes even the stomach, as a result of which the baby’s nutrition becomes sharply difficult, depletion develops, sometimes reaching an extreme degree of severity. There may be through holes in the walls of these organs, against which life-threatening complications form. There are lesions of the disease of the rectum and anus, as a result, the passage of the stool can become completely impossible. If the mucous membranes of the genitals and urinary system are affected, then this further leads to a violation of the normal outflow of urine, complications from the above systems. With lesions of the fingers, the nails suffer greatly, sometimes they completely disappear or deform. Finger joints on the arms and legs are also found, which are not malformations, but are formed as a result of the disease itself, during the life of the child. Hands in the elbow joints and legs in the knee can be tightly fixed in the flexion position, movements in them are significantly hindered or completely lost. All of the above violations are most common in most sick children. However, the range of disorders of the described epidermolysis species can be much wider. Often there are a variety of types of damage to hair, nails, teeth, skeleton, joints. As a rule, such children have low growth and body weight, they have significant violations of the body’s immune forces. Always indicated pathology leads to the development of disability. Deaths are not excluded. Anemia often develops, as a result of the loss of a large amount of blood from defects that arise as a result of opening bubbles on the mucous membranes. If you do not pay enough attention to caring for the skin and mucous membranes of the child, then tumor processes occur in places of scars, in some cases even various forms of cancer.
However, the disease is not always so severe. There is also its local form, when lesions on the mucous membranes are limited to only one or several small areas. The course of pathology in these cases is much more favorable. At the same time, blisters on the skin mainly occur in the area of the hands, feet, elbows and knee joints. Coarse large scars never happen. There is a slight atrophy of the skin, the formation of a small number of cystic cavities in it. The mucous membranes suffer even less. Small changes are detected by the nails.
Treatment of the Bullous Epidermolysis Disease Group
Since epidermolysis refers to hereditary metabolic diseases, the possibilities for their treatment are somewhat wider. It is known that the basis of this group of pathologies is a violation in the metabolism of a particular protein that regulates the sensitivity of various tissues, including skin, to the action of temperatures. In this case, there is a violation of metabolic processes in all cells. Therefore, the most effective method of drug therapy is the appointment of anabolic steroids to the patient.
Vitamins are used, in particular E, hormones of the adrenal cortex in order to increase the general resistance of the body to the action of various adverse factors. Amino acids, biologically active substances, and other drugs that stimulate metabolic processes are prescribed.
Also, for the purpose of a general strengthening effect, medicinal substances containing calcium, iron, zinc, sulfur, aloe, and a suspension of human placenta can be used. Immunoglobulins are used, which are a set of antibodies necessary for the child’s body. With dysbiosis, pro- and eubiotics are prescribed. A particularly important drug is ascorbic acid.
On the skin, it is necessary to open the bubbles that appear in a timely manner, and disinfectant solutions and ointments are used in these places to help speed up the healing process. Careful proper skin care is necessary for the patient’s skin, its injury and the effect of high temperatures on it should not be allowed. When infectious complications join, antibiotics are prescribed.
Prevention and rehabilitation measures are the same as in patients with other hereditary skin diseases.
Forecast
Different, depending on the severity of the disease. With local forms, favorable in every way. In severe cases, deaths are possible. The vast majority of these children subsequently remain disabled for life.