How long can you live with epidermolysis bullosa? Epidermolysis bullosa - is it possible to cure butterfly disease in humans? Why are you doing this?

Epidermolysis bullosa is a group dermatological diseases, which are characterized by the formation of blisters on the skin and mucous membranes. In this pathological condition, there is increased vulnerability of the integument: the slightest pressure provokes a problem.

Epidermolysis bullosa - causes

Due to the increased fragility of the skin, this pathology is also known as butterfly disease. Epidermolysis bullosa has various causes. This is due to the fact that there are several options for the course of the disease. The main cause of this pathological condition is a mutation of 10 different genes. As a result of such a failure, protein destruction begins. This process occurs under the influence of pathogenic secretions. The type of pathology depends on which genes are affected:

1. If KRT5 and KRT14 are mutated, the patient is diagnosed with a simple form of the disease.
2. When a malfunction occurred in the LAMB3 and LAMA3 genes, we're talking about about the borderline type of the disease.
3. The COL7A1 mutation is fraught with the development of a dystrophic type of disease.

Taking all this into account, epidermolysis bullosa most often occurs due to a gene failure, resulting in the activation of harmful enzymes. All this leads to protein destruction. Without it, the skin cannot function properly. She becomes very vulnerable and brittle. Even with the slightest external influence, ulcers and blisters appear on the skin. They cause a lot of trouble and are very difficult to treat.

Epidermolysis bullosa acquired

This pathological condition can appear at any age. There have been cases where this disease was diagnosed in a 3-month-old child. However, epidermolysis bullosa most often affects the elderly. Both men and women are equally susceptible to developing this disease. This is how butterfly disease appears:

1. Develops slowly.
2. Becomes chronic.
3. It most often affects the extensor areas, such as the elbows and wrists, although other areas may also be affected.

There are two types of epidermolysis bullosa acquisita:

• classical;
• inflammatory.

Congenital epidermolysis bullosa

The main factor influencing the development of this disease is hereditary predisposition. In other words, pathology is transmitted from parents to children. The disease is inherited both recessively and dominantly. There are other factors that provoke the occurrence of the disease. What causes epidermolysis bullosa:

• bad habits of the expectant mother;
• influence of toxic and chemical substances;
• viral infections (rubella, measles, scarlet fever and others);
• overdose of certain medications.

Epidermolysis bullosa - symptoms

The clinical picture directly depends on the type of disease affecting. For example, butterfly disease in humans may be accompanied by a standard manifestation - blisters on the skin. However, in some cases this disease is accompanied by diarrhea and severe vomiting. Other symptoms may also appear:

• nail plates thicken;
• erosions and ulcers appear in the mouth;
• the skin on the feet and palms thickens;
• milia appear;
• hair is thinning.

Depending on the stage, the disease may progress with varying degrees expressiveness. The area of ​​damage may also change. The localization area of ​​the bullae also varies. There are the following types of disease:

• simple;
• dystrophic;
• border;
• mixed.

Epidermolysis bullosa simplex

This type of disease appears immediately after the birth of the baby. Blisters filled with serous fluid appear on the body. Butterfly disease has 12 subtypes. The following options are considered the most common:

1. Localized– the disease affects the feet and hands. Its aggravation is observed in the summer. In children it is more pronounced, but as they grow older, the symptoms are minimized.
2. Generalized– considered the most severe subtype. With such a lesion, the skin becomes covered watery pimples and blisters. At the same time, the epidermis thickens on the palms and soles of the feet, atrophic scars appear, and deformation of the nails is observed.
3. Spotted– on initial stage the disease proceeds as simple epidermolysis. Opened blisters leave pigment spots on the skin.
4. Nonherpetiform– single blisters appear on different parts of the body.

Dystrophic epidermolysis bullosa

There are two types of this disease: hyperplastic and polydysplastic. In addition, epidermolysis bullosa is distinguished into a recessive dystrophic form and a dominant one. The hyperplastic type is characterized by the following symptoms:

1. The disease begins to appear immediately after the baby is born or within the first two days.
2. After any mechanical impact, watery pimples form on the skin.
3. Opened blisters leave scars on the skin.
4. Nail plates and teeth are not deformed.
5. The disease does not affect the mental and physical development of the child.
6. Not only the skin, but also the mucous membranes can be affected by rashes.
7. As the baby grows older, the disease weakens.

It is not difficult to recognize what epidermolysis bullosa looks like; photos demonstrate the symptoms of this disease. The following clinical picture is typical for the polydysplastic type of pathology:

1. Negative signs begin to appear immediately after the baby is born.
2. Rashes affect the mucous membranes and skin, and they can appear spontaneously.
3. The blisters contain fluid mixed with blood.
4. After the blisters open, ulcers form in their place.
5. Patients complain of severe itching.
6. Deformation of nails and teeth is observed.
7. Spontaneous rejection of certain parts of the body, for example, the phalanges of the fingers, often occurs.
8. The child has both physical and mental problems.

Borderline epidermolysis bullosa

This type of disease is considered somewhere between a simple form and a dystrophic one. There are two types of this disease: Herlitz and non-Herlitz subtypes. This type of epidermolysis bullosa (butterfly disease) has the following features:

• the sensitivity of the skin and mucous membranes to irritants increases;
• granulation of connective tissues is observed;
• tooth enamel is damaged.

Kindler syndrome

This is a separate type of disease. It is considered poorly studied. In addition, this disease is very rare. Mechanobullous disease is characterized by symptoms such as:

• blistering;
• disruption of the digestive system;
• development of periodontitis, caries and other diseases oral cavity;
• the appearance of disturbances in the functioning of the genitourinary system;
• thinning of the nail plates.

Epidermolysis bullosa - treatment

Before prescribing therapy, a study is prescribed to confirm the presumptive diagnosis. When collecting information, the patient's complaints are taken into account and laboratory testing is carried out. Only after the diagnosis of epidermolysis bullosa is confirmed, the doctor prescribes therapy. For example, the following antiseptic agents are more often used to treat opened blisters:

• Nitrofural;
• aqueous solution;
• methylthioninium chloride;
• Octenidine dihydrochloride.

If signs of secondary infection are observed in the affected area, epidermolysis bullosa dystrophic type is treated using the following means:

• antimicrobial silver-containing dressing;
• ointment atraumatic agent with a wax coating;
• paraffin gauze bandage soaked in Chlorhexidine solution;
• antimicrobial silicone coating.

Agents that stimulate tissue regeneration may also be prescribed:

• Retinol acetate;
• Bepanten plus.

If the infection spreads, the following antibiotics are prescribed:

• Moxifloxacin.

If the mucous membranes of the oral cavity are affected, the following drugs may be prescribed:

• Choline salicylate;
• Aluminum hydroxide;
• Retinol palmitate.

Is epidermolysis bullosa curable or not?

To date, there is no therapy that can completely get rid of the disease. Patients diagnosed with this pathology are prescribed only symptomatic treatment, thanks to which you can slightly improve their condition and minimize discomfort. For this reason, the question of whether butterfly disease can be treated still has a negative answer. At this point in time, this disease is considered incurable.

It is very important for the patient that his clothing is chosen correctly:

1. Preference should be given to those made from natural fabrics.
2. At the same time, clothing should not compress or tighten.
3. It is advisable that it be multi-layered: this will retain heat and prevent the accumulation of sweat.
4. Underwear and the first layer of clothing in direct contact with the skin should be worn with the seams facing out.
5. The presence of tight elastic bands and straps is unacceptable.

Epidermolysis bullosa is a disease in which it is important that the patient’s shoes are comfortable and loose:

1. It is desirable that it be made of soft leather and have a minimum number of seams.
2. To avoid injury, preference should be given to shoes without decorative elements.
3. Not the best option Products with zippers are considered: it is recommended to give preference to those with Velcro.

Epidermolysis bullosa - life expectancy

The prognosis for this disease is ambiguous. If a butterfly disease is diagnosed, how long they live depends on the form of the disease, the degree of damage to the skin and mucous membranes, the age of the patient and his general condition. According to statistics, newborns with severe epidermolysis bullosa syndrome have a short life expectancy. In addition, there is a high risk of death when improper care for the patient. In adults, the disease is milder: periods of exacerbation alternate with remission. Regular maintenance therapy contributes to increasing life expectancy. In the USA, for example, there are butterfly people who live up to 80 years with a similar diagnosis.

The human body is very complex system, the slightest failure of which can lead to changes in the operation of many systems. Often, a child has just been born, and is already accompanied by unpleasant diseases. Unfortunately, you cannot fool nature, and disorders at the genetic level can manifest themselves from the first days of life. Thus, the diagnosis of epidermolysis bullosa refers specifically to such diseases.

Features of the diagnosis of epidermolysis bullosa and its symptoms

Epidermolysis bullosa is a term that covers a group of diseases characterized by the appearance of blisters and erosive areas on the skin or mucous membranes. At the same time, the skin is very vulnerable, easily susceptible to injury and has hypersensitivity- such patients are often called butterfly children, because epidermolysis manifests itself in the first months or immediately after birth. It should be noted that the disease in question manifests itself due to changes at the genetic level, most often inherited.

Epidermolysis bullosa is quite rare disease- occurs in one of tens or hundreds of thousands of patients. As a rule, it appears from birth and, depending on the variety, its symptoms may fade with age or become more pronounced. Often, the disease can affect other vital systems of the body, and can also be accompanied by the development of infection.

The peculiarity is that mutations affect genes in different layers skin, which encode proteins. In this case, changes can occur not in one gene, but in several at once - often the disease disrupts the structure of more than 10 genes.

The hallmarks of this diagnosis are the following symptoms:

• the presence of blisters on the skin filled with colorless and odorless liquid that heal without scars or leaving them;
• the appearance of skin erosion;
• increased sensitivity of the skin and a tendency to develop injuries, cracks and microdamages at the slightest impact;

Depending on the severity and type of epidermolysis bullosa, other, more severe symptoms which are considered on an individual basis.

Symptoms often appear in the first hours of a newborn's life, so training and awareness medical personnel will be important in the further treatment of the patient.

Cause of epidermolysis bullosa

The main reason is genetic predisposition to a mutation of genes responsible for coding proteins, which is inherited from parents to children.

Typically this happens in two ways:

1. Autosomal dominant- typical for simple type epidermolysis bullosa.
2. Autosomal recessive- for borderline.

Another type - dystrophic- can be inherited in both ways.

Men and women have the same risk of developing this disease. That's enough rare occurrence, but examples of it exist. This experience is used for scientific research and development of treatments.

When planning a child, it is important to clarify information about whether the parents have hereditary diseases, perhaps undergo some genetic studies that will prevent the development serious pathologies. Also, when establishing the fact of pregnancy, it is advisable for parents at risk to undergo all planned examinations and screenings to identify abnormalities in the development of the fetus.

Various forms of epidermolysis

The classification of epidermolysis bullosa is based on the possibility of blisters appearing on various levels layers of skin.

Each form is divided into several subspecies depending on the following factors:

• genotype;
• phenotype;
• the principle of inheritance.

There are several various forms.

Simple view

It is characterized by the formation of blisters in the upper layers of the skin. Their localization is the feet, hands, and in severe cases the entire human body can be affected. At mild degree blistering lesions disappear without scarring, but due to excessive sensitivity of the skin, relapses may occur.

Among the subtypes of the simple type, there are two main ones:

1. Localized - in which an exacerbation of epidermolysis occurs in the summer. Blisters appear on the palms, soles, or all over the body, but their number usually decreases with age. The disease can accompany several generations.
2. The generalized Dowling-Meara type is one of the most severe forms epidermolysis bullosa. It is characterized by the appearance of blisters from birth.

Additional symptoms may include:

• hyperpigmentation;
• some types of hyperkeratosis;
• miles (small white nodules);
• disruption of mucous membranes;
• the appearance of scars;
• dystrophy of the nail plates, fusion of the fingers;
• diseases of the cardiovascular system;
• developmental disorder and growth retardation.

This type often has an unfavorable prognosis - the mortality rate of newborns with this diagnosis is high.

Dystrophic appearance

Characterized by the appearance of bubbles at the level upper parts papillary layer of skin, but below the level of the lamina densa. Localization of blisters is mainly the arms and legs, sometimes the whole body. Symptoms in most cases are standard - erosion, blisters, scarring, degeneration or loss of nail plates. Relapses of the disease are frequent. In most cases it is different severe damage skin.

There are two main subtypes depending on the type of inheritance:

• dominant;
• recessive.

Depending on the subtype of diagnosis, the following complications are possible:

• developmental delay;
• the appearance of joint contracture - restriction of their movement;
• problems with functioning gastrointestinal tract;
• anemia;
• diseases of the cornea;
• high risk of developing cancer.

Border view

This species is characterized by the appearance of blisters in the layers of the skin, which correspond to the level of the light plate of the skin.

Its features:

• increased sensitivity and vulnerability of the skin and mucous membranes;
• the appearance of blisters that resolve without scarring or with scarring;
• formation of granulation tissue - connective tissue, which forms at the site of damage during healing;
• damage to tooth enamel.

There are two subtypes of this form:

1. Herlitz subtype, which is characterized by:
   • a large number of bubbles;
   • the presence of erosions and scars;
   • disease or complete absence of nail plates;
   • milia;
   • severe diseases of the oral cavity - caries, inflammation of soft tissues, damage to the enamel coating of the teeth.

Additional symptoms of the advanced stage may be anemia, pneumonia, sepsis, eye diseases, gastrointestinal disorders, foci of granulation tissue on the face and in the armpits.

1. Non-Herlitz subtype, its symptoms may be:
   • areas of blistering and erosion on the skin;
   • formation of crusts and scars;
   • nail diseases;
   • caries and enamel damage.

The symptoms of both subtypes are similar, but the Herlitz type is distinguished by more severe damage to the body.

Kindler syndrome

A separate view - in which the appearance of blisters is possible at different levels of the layers of the skin of the upper and lower limbs. Their formation occurs already by the time the baby is born. In addition to the formation of blisters, the following symptoms are possible:

• development of caries, periodontitis and other oral diseases;
• disruption of the gastrointestinal tract;
• development of eye diseases;
• nail dystrophy;
• the emergence of problems in the functioning of the genitourinary system.

As the patient grows, the number of newly formed blisters decreases, but the skin becomes very thin and sensitive, and small blood vessels may appear close to the surface of the skin.

Timely diagnosis

Medical treatment for this disease begins with diagnosis - it makes it possible to establish an accurate diagnosis, including the subtype of epidermolysis, which makes it possible to prescribe specific treatment. In addition to the external examination, a number of specific studies are carried out:

• immunofluorescence;
• immunohistology;

They allow you to assess the level of disruption of gene structure and the depth of skin layers affected by the disease.

Also held:

• biopsy;
• genetic analysis;
• microscopy - to assess the condition of the inner layers of the skin.

It is mandatory to collect the patient's medical history - obtaining information about the presence of family diseases, the duration of the disease, its manifestations and symptoms, and comprehensive examination all body systems, urine and blood tests.

Timely diagnosis and determination of an accurate diagnosis - the subtype of epidermolysis bullosa can provide an opportunity to improve the quality of life of a small patient and create an obstacle to the development of relapses of the disease.

Treatment methods for epidermolysis bullosa

As a rule, complex systematic treatment is prescribed, which may include the following components:

1. Hygienic procedures for blisters, wounds, erosions and ulcers on the skin. This is necessary to speed up their healing and reduce the likelihood of their growth - special non-adhesive bandages are most often used as bandages without protruding threads that can injure the patient’s delicate skin.
2. Protein therapy requires the introduction of a certain amount of protein into the body.
3. Cell therapy, in which cells containing healthy genes responsible for protein coding are introduced into the patient’s body.
4. Gene therapy, characterized by the introduction of genes into the body, replacing those with a disrupted structure.
5. Some methods of combined treatment.
6. Use for the treatment of brain stem cells, both donor and own.
7. Use of specialized medicines, preventing blocking of protein coding.
8. Treatment concomitant diseases- depending on their severity and the degree of damage to the body.

It should be noted that active work is currently underway to scientific developments treatments for epidermolysis bullosa, such as Russian Federation, and abroad. But there is no single method for diagnosing and treating this disease yet, and the qualifications of specialists are not at the proper level everywhere, which does not guarantee a successful outcome for patients with a similar diagnosis.

Life expectancy with epidermolysis bullosa

Outcome of the disease and life expectancy with a diagnosis of epidermolysis bullosa directly depends on the degree of change in the structure of genes and the depth of damage to tissues and the entire organism as a whole. The patient's condition is also affected by the subtype of epidermolysis. Simple forms can occur relatively easier than more severe ones, accompanied by the formation large quantity blisters, the development of an infectious process and dysfunction internal organs and body systems. The second variant of the course of the disease often ends in death in infancy.

The life expectancy of people with this diagnosis is usually low. Besides medical indications, it depends on the degree of care for the patient - in this case, parents need to make every effort and patience - this will make it possible to improve the quality of life of the little patient.

Medical history describes cases of so-called reverse mosaicism - when, with an inherited mutation that changes the structure of certain genes, they are restored due to the work of certain body systems and new changes at the gene level. This process is extremely rare, but nevertheless, such a miracle takes place.

No matter how unpleasant the diagnosis may seem, modern medicine can work wonders. Timely diagnosis, competent treatment and regular examinations can provide an opportunity for good outcome illness or some improvement in the patient’s quality of life. Of course, the result largely depends on the severity of the disease and the general health of the patient, and in this case, unfortunately, genetic predispositions cannot be changed.

Articles on the topic

Update: October 2018

Human skin is an important anatomical structure and plays huge role in his life. The skin protects the body from infection, injury, hypothermia and overheating, participates in the regulation of water and mineral metabolism, and much more. But with development skin diseases Not only the skin suffers, but the body as a whole suffers. A particularly severe pathology is epidermolysis bullosa. This disease is very difficult in the absence of proper care for the patient and is difficult to treat.

What kind of disease is this

Congenital epidermolysis bullosa includes a whole group of diseases (more than 30 forms), which are united by one name. A common symptom of these diseases is the appearance of blisters on the skin at the slightest mechanical injury. This pathology It is also called butterfly disease, but not because sick children grow wings, but because of the excessive fragility and vulnerability of the skin that is characteristic of them (it is easy for a butterfly to damage its wings). The mechanism behind the formation of blisters is a shift between the upper and lower layers of the skin. He proposed to call the disease with this term German doctor– dermatologist Heinrich Koebner. The group of these diseases is genetically determined and can be inherited in an autosomal recessive or autosomal dominant manner; it has been proven that mutations affect more than 10 genes.

Epidemiology

The disease epidermolysis bullosa is widespread in 70 (total 85) constituent entities of the Russian Federation. Its frequency is 0 – 19.73 cases per 1,000,000 population. In Russia, the incidence of epidermolysis bullosa reaches 1:50 thousand - 1:300 thousand of the population.

Pathology researchers have found that in many countries around the world, epidermolysis bullosa simplex predominates in the structure of the disease, and in some countries - dystrophic epidermolysis bullosa. Sex differences are not typical for this pathology. It was noted that children and adolescents predominate among the registered patients, which is associated with the high mortality rate of such patients.

Reasons

Normally, the layers of human skin are held together by substances of different compositions. The development of this pathology is based on a defect in the attachment between the epidermis (superficial layer of the skin) and the dermis (deeper layer). The development of the disease is caused by gene mutations in those genes that are responsible for the synthesis of structural proteins of the skin - providing a mechanism of attachment between its different layers. To date, more than 1000 mutations have been discovered in 15 genes of skin structural proteins, which lead to various forms of epidermolysis bullosa. Mutations cause a disruption in the formation of proteins: a complete absence of protein, the production of an inferior protein that is not able to “stick together” the layers of the skin, the synthesis of a protein with a disrupted structure, due to which proteases (enzymes that destroy proteins) gain easy access to the protein. Thus, it becomes clear that the causes of pathology are gene disorders and the disease is inherited.

In the simple form of the disease, mutations are present in the following genes: KRT5, KRT14, RKR-1, PLEC, ITGA6, ITGB4. In this case, defective proteins are formed in the surface layer of the skin (in keratinocytes): desmoplakin, keratin 5 and 14, plectin and others, which are affected by proteases that are released during mechanical action on the skin, which leads to the formation of blisters.

Mutations in the genes LAMB3, LAMA3, COL7A1 and a number of others cause a defect in the formation of proteins of the basement membrane (lower layer of the epidermis): laminin 332, collagen 17, integrin and lead to the development borderline form epidermis. This form, in addition to the formation of skin blisters, is characterized by excessive fragility of the skin and a more severe course.

The dystrophic form of the disease develops due to mutations in the COL7A1 gene, which is responsible for the synthesis of kindlin and collagen 17 and is located in the connective tissue fibers of the skin. A decrease in the formation of these proteins causes not only easy education blisters and erosions, but also leads to damage to other organs (mucous membrane of the respiratory system and gastrointestinal tract, joint contractures). The dystrophic form of the disease is severe, with the formation of rough scars on the skin, on which malignant formations often occur.

Classification

Today, many varieties of the disease are known and attempts have been made to classify them into certain types. There are many classifications, which makes even researchers of epidermolysis bullosa confused. The most modern classification This pathology, used by dermatologists, includes 4 main forms (types) of epidermolysis bullosa, each of which is divided into subtypes:

• Epidermolysis bullosa simplex

This type of disease includes 12 subtypes. The level at which the bubble forms is the intraepidermal layer. The most common subtypes are: Weber-Cockayne syndrome, Koebner syndrome, Dowling-Meara syndrome. Inheritance of this type occurs both autosomal dominant and autosomal recessive. Bubbles form intraepidermal and subepidermal - the proteins of the epidermis are affected.

• Borderline epidermolysis bullosa

Includes 2 subtypes, one of which has 6 independent forms. The level of bubble formation is the light plate of the basement membrane of the epidermis. The most severe form of this type is the Görlitz subtype, which has a very high mortality rate. Due to the formation of bubbles at the level of the light plate this form called “borderline” epidermolysis.

• Dystrophic epidermolysis bullosa

It is divided into 2 subtypes, depending on the mechanism of inheritance (dominant or recessive). Dominant is more common. The recessive subtype of dystrophic epidermolysis includes several forms, one of which is the most severe - the Allopo-Siemens subtype. The level of blistering is the papillary layer of the dermis, which causes the formation of long-healing erosions and the appearance of rough scars.

• Kindler syndrome

This form is also called mixed epidermolysis; it is considered rare and little studied. The peculiarity of this type is the formation of bubbles in the epidermis, in the dermis, and at the level of the light plate.

Clinical picture

Leading clinical sign disease in any form is the appearance of blisters in response to minor mechanical injury. Subtypes of simple epidermolysis are characterized by the formation of hemispherical, tense and fluid-filled blisters that form at sites of friction/trauma. Borderline and dystrophic forms are accompanied by the formation of flaccid, folded tires that sag under the weight of the fluid. Such blisters easily open and form not only in areas of injury, but also in stretch areas (groin and axillary folds, in the neck area). With any type of pathology, multiple blisters and erosions can form, which cover a large area of ​​​​the skin. Erosion is characterized by long healing for any type of disease.

Simple form of the disease

The blisters are localized on the feet and hands, and in severe cases of the pathology, the entire skin of the patient is affected. If the disease is mild, the blisters heal without leaving scars. Simple form is divided into 2 large subtypes: localized and generalized.

Localized simple EB or Weber-Cockayne syndrome is characterized by the formation of blisters on the palms and soles, and the disease worsens in the summer, when the risk of skin trauma and sweating increases. The older the child gets, the fewer blisters he develops.

Generalized simple EB or Dowling-Meara syndrome is severe and is characterized by the formation of blisters in newborns immediately after birth. The progression of the disease is observed for up to a year, then the process stabilizes and over time there is an improvement until the occurrence of blisters or their rare formation ceases. Often such blisters are filled with pus and covered with layered yellowish crusts. After the blisters disappear, persistent pigmentation is observed in the places where they are located.

Additional signs of simple generalized EB include:

• constipation;
• anal fissures;
• hyperkeratosis;
• damage to mucous membranes;
• difficulty breathing;
• nail dystrophy and finger fusion;
• heart pathology;
• esophageal reflux;
• formation of miles (white nodules);
• signs of anemia (pallor and weakness, dizziness);
• basal cell form of skin cancer (in adults).

Dystrophic form of the disease

The dystrophic form can be inherited recessively or dominantly. This is the most severe subgroup of EB, since the deep layer of the dermis is damaged, healing of the blisters occurs with the formation of rough scars. Almost always, in the dystrophic form of the disease, the mucous membranes are affected. The characteristic and most severe subtype of the dystrophic form is Allopo-Siemens syndrome. Manifestations of the disease are visible from birth, and many newborns are born with complete absence epidermis on the limbs. The pathology is especially difficult in the first years. Slow epithelization of erosions is noted, up to several months. It is typical that the older the child, the worse the healing process. The formation of rough scars leads to the formation of contractures and fusion of the fingers, which further blocks the growth and development of the hands/feet. Similar scar changes lead to difficulties in self-care and movement. Damage to the mucous membranes with the formation of erosions in the tube ends with scarring and the formation of microstomia (narrowing of the mouth opening), a short frenulum of the tongue, and a speech defect. Scarring of erosions in the pharynx/esophagus leads to the formation of obstruction and narrowing of the esophagus, and difficulty swallowing. Healing of erosions in the rectum disrupts bowel movements. Patients are also susceptible to caries and often have abnormalities in the position of their teeth, up to complete loss.

Borderline form of the disease

The most severe subtype is Gerlitz syndrome, which is characterized by the formation and rapid spread of flaccid and multiple blisters that burst almost immediately. Excessive growth of granulation tissue leads to the formation of granulations around the mouth and nails, which occur in the first days of a baby's life. The child is also accompanied by skin aplasia (the absence of part of the skin on the scalp), defective nails and hoarseness of the voice, and dental problems. Healing of erosions is also accompanied by the formation of rough scars. Other symptoms (non-skin): delayed growth and mental development of the child, respiratory failure, anemia, problems with the lungs (pneumonia) and digestive tract (gastroenteritis) and the development of sepsis. Mortality with Gerlitz syndrome is very high, the child dies from respiratory failure(formation of a bubble on the mucous membrane respiratory tract), sepsis or dystrophy.

Kindler syndrome

This form is characterized by the appearance of widespread blistering formations already at birth, photosensitivity and thinned, wrinkled skin. Non-cutaneous symptoms manifest as acute colitis, esophagitis, narrowing urethra, inversion of the century. Teeth remain fine.

Life expectancy of patients

How long do butterfly children live? Reply to this question definitely difficult. The life expectancy of patients with epidermolysis bullosa is directly proportional to the form of the disease, the degree of damage to the structure of genes, the depth of skin damage and the general condition of the child. Unfortunately, such patients rarely survive to adulthood, and this is primarily due to caring for them, which requires a lot of effort, patience and courage. Children with severe generalized forms of the disease live only a few years and die within preschool age, for example, Görlitz or Allopo-Siemens syndrome. Mild forms, especially simple EB, can go into stable remission over time, and the formation of blisters is associated only with trauma to the skin.

Diagnostics

Diagnosis of this disease is made based on the collection of anamnesis and complaints, a general examination of the patient and is confirmed laboratory research. For laboratory analysis must be carried out histological examination a piece of skin taken from the site of injury where a fresh blister is located. Histological analysis allows identifying the subepidermal cavity, but is powerless in determining the type of epidermolysis bullosa. For this purpose, a study is carried out using the method of indirect immunofluorescence (IDIF) or transmission electron microscopy:

• A skin biopsy, which is examined using NRIF, allows us to determine the presence, decrease or absence of skin protein synthesis. In addition, NRIF helps determine the level of skin damage and blister formation (intraepidermal level, within the lamina lucidum of the basement membrane or under the lamina densa). In diagnosis, it is important to determine the missing protein and the level of formation of the bladder formation. To perform NRIF, a skin biopsy is obtained from a blister that has formed within 24 hours or less. A section of skin is taken at the border of a healthy area and a fresh blistering formation.
• The subtype of the disease is determined using electron microscopy. Ultrastructural changes in the skin biopsy are detected and the state of cellular and extracellular formations is assessed.

Also used to diagnose epidermolysis bullosa related specialists(therapist, gastroenterologist, hematologist, cardiologist, surgeon, dentist, ophthalmologist, ENT doctor, oncologist).

Differential diagnosis

Epidermolysis bullosa in newborns is differentiated from diseases such as:

• pemphigus of newborns;
• exfoliative dermatitis;
• herpes of newborns;
• bullous congenital erythroderma.

At older ages, the disease is differentiated with the following pathologies:

• dermatitis herpetiformis;
• bullous pemphigoid;
• exudative erythema;
• epidermal necrolysis.

Treatment

Treatment of epidermolysis bullosa is not an easy task and has the following goals:

• treatment of blisters and ulcers;
• prevention of new rashes;
• elimination or reduction in the intensity of non-skin symptoms;
• improving the patient's quality of life.

No specific therapy has been developed for this disease. Symptomatic treatment methods are used. The patient should be examined twice daily for new rashes. Blistering formations are first treated with an antiseptic, then opened using sterile scissors, a scalpel or a needle. The bladder is punctured in two places parallel to the skin. The lid of the bottle should not be removed; you just need to release its contents and apply an aseptic bandage with an antiseptic (nitrofural, methylthionium chloride, etc.). To bandage the lesion, primary dressings made of collagen porous materials and secondary fixing ones are used. Remove the bandages by treating them with a skin cleanser (spray).

If the patient is bothered by itching, antihistamines and glucocorticoids are prescribed. For significant pain, use non-narcotic analgesics (ibuprofen, ketorol). If the child has difficulty swallowing, medications are prescribed orally in liquid form (suspension) or administered parenterally. If a secondary infection occurs, antibiotics are prescribed. Treatment of intact skin with vitamin A ointments and cosmetic moisturizers twice a day is also recommended. This increases the protective properties of the skin. If complications develop, related specialists are involved in treatment.

Patient care

The regimen for a sick child should be protective. That is, any physical activity, which increase sweating, sudden movements and traumatic situations.

Patients need a special diet. Food should be pureed, not cold or hot, semi-liquid and without seasonings or spices. The diet should be rich in proteins, carbohydrates and fats, as well as vitamins and minerals - the body requires building substances to heal erosions. Also, the patient should consume a lot of fluid (wound areas of the skin lose tissue moisture).

Special requirements apply to clothing and footwear. A sick child's clothing should be loose and not rub or tighten the skin. You should give preference to clothes made from natural materials. At home, it is advisable to dress the child in soft pajamas (from flannel, flannel), and socks on his feet (slippers are not advisable). Clothing should be multi-layered, this way it retains heat and prevents sweat from accumulating. Wear underwear and the first layer of clothing with the seams facing out. Straps and belts, tight elastic bands on swimming trunks and pajamas are not allowed.

Shoes should be made of natural but soft leather, with a minimum of seams and the absence of decorative details. It is advisable to purchase shoes with Velcro, avoiding shoes with zippers. Your child's shoes should be loose and easy to put on, even with bandages on the feet.

Question - answer

Question:
Are there any contraindications for immunizing a child with epidermolysis bullosa?

No, special contraindications does not exist. Vaccinations are not given only if the patient is not feeling well (complication skin rashes). Mantoux tests are also not performed.

Question:
Is it possible to be cured completely from epidermolysis bullosa?

Unfortunately, the disease is incurable, as it is determined at the genetic level. But in medicine, rare cases of reverse mosaicism have been described - restoration of the body’s functioning, in particular, skin proteins and the occurrence of new changes in the structure of genes. But the parents of a sick child can be consoled by the fact that the older the patient becomes, the milder the disease progresses.

Question:
Is it possible to somehow prevent the disease?

Yes, prenatal diagnostics exist and are currently active in Russia genetic diseases, including epidermolysis bullosa. For this purpose, at 10–14 weeks, chorionic centesis is performed and the presence of a genetic defect in the fetus is determined. If it is present, it is recommended to terminate the pregnancy. Prenatal diagnosis indicated for married couples who already have a sick child or with a confirmed illness of one of the parents.

Question:
Is disability indicated for patients with epidermolysis bullosa?

Yes, disability is determined for any form of illness and a pension is assigned.

Epidermolysis bullosa is terrible disease. Children who suffer from it are compared to butterflies due to the fragility of the skin. This disease can be congenital or acquired, in which numerous blisters with bloody or transparent contents form on the skin. First they begin to get wet, and then turn into non-healing erosions. This disease is incurable and often ends in death.

What is epidermolysis bullosa?

The concept of epidermolysis bullosa implies a whole complex of skin diseases that are genetic in nature. With this disease, blisters form on the mucous membranes and skin. They appear even with minor trauma or pressure on the skin. If we talk in simple language, the skin of a baby suffering from epidermolysis bullosa resembles the very delicate wings of a butterfly.

This happens due to the fact that in sick children there are no special fibers between the outer and inner skin layers that arise from the interaction of proteins. People call this disease “butterfly syndrome.” Most often it is congenital, caused by mutations in genes. With this disease, children may not live even to the age of three.

Symptoms

The main manifestation of the disease- blisters on the skin. They appear as a result of force on the skin (impact, friction), but usually a light touch is sufficient. The child cannot wear clothes, because even natural and seamless fabrics, in contact with fragile skin, lead to the formation of bubbles.

Blisters appear on the skin and mucous membranes of the mouth, digestive tract, which is why eating rough, unground food can cause injury. In extremely severe cases, babies cannot even drink milk due to severe pain, dying by starvation.

Bubbles are filled with bloody or transparent contents. They are very painful, but when they are opened, the fluid pours out, the pain decreases, and they themselves heal.

Forms

The term epidermolysis bullosa includes several forms of pathology, differing in course, manifestations and prognosis.

Simple congenital form

This disease is considered less dangerous and is passed on from generation to generation.. Butterfly disease is diagnosed immediately after the birth of a child or after a few days, and boys are sick more often than girls.

The simple form is manifested by vesicles filled with serous fluid. They are localized in areas of the skin that have been subjected to pressure or friction. The main traumatic factor is childbirth. Bubbles in butterfly babies occur in places that are in direct contact with the birth canal. The rashes range in size from a few millimeters to several centimeters. Adjacent areas of the skin remain unchanged.

Most often, bubbles appear:

• on the legs;
• knees;
• elbows;
• hands

The mucous membranes are also affected, but much less frequently. Nails remain completely healthy. The bubbles open naturally or artificially. When they disappear, they leave no defects on the skin, but temporary pigmentation may be present. With this form of the disease, the child develops normally.

Dystrophic form

This is a more dangerous form of butterfly syndrome. It arises a few days after birth. Bubbles can appear completely spontaneously, sometimes they are filled with bloody contents. When they open, they lead to the formation of scars or ulcers. The skin and mucous membranes, as well as nails, are affected. Child development remains normal only in some cases.

Quite rarely, in the dystrophic form, rejection of body parts is observed. The phalanges of the fingers are especially affected. Hypotrichosis and dental abnormalities may develop. Children with this diagnosis cannot resist infectious diseases.

Malignant form

This is a fatal form of butterfly disease. It is diagnosed immediately after the birth of the baby and is characterized by the presence of bleeding wounds throughout the body. Bubbles also appear on the mucous membranes of internal organs. Usually the child becomes infected immediately pneumococcal infection, which leads to sepsis and death.

Is it possible to cure this pathology?

Butterfly syndrome cannot be cured, but with a simple form one can hope for a favorable prognosis. In this case, doctors and parents should provide symptomatic care to the baby. It consists in the fact that the affected areas of the skin are treated to prevent purulent complications. They can pose a serious danger to a child, especially a very young one.

Before putting any clothes on the baby, even underwear, he is bandaged with special bandages that do not stick to the skin. This is a very long and painstaking process, sometimes taking several hours. In severe cases, dressings are performed 2–3 times a day. In this case, be sure to use a special moisturizer. It is vital for children with very thin skin.

External care for the skin of a butterfly baby is as follows:

• the bubbles are opened on both sides using a sterile needle;
• the affected areas are treated with antiseptic drugs, including Fuchsin and Eosin;
• if erosions occur, heliomycin ointment or antibiotic-based agents are applied.

Physiotherapy shows good results when caring for a child with butterfly syndrome.

Forecasts

The disease appears immediately after birth. Even while passing through birth canal Sick children are skinned like a snake. Most often, newborns, especially those with a severe form of pathology, die in the first days or weeks of life.

Butterfly children are no different from their peers in physical and mental development. Although the disease leaves its mark, by creating a safe environment and providing good care, a child can be protected from excruciating pain and his life can be made a little more comfortable. The critical period is the age of up to three years, when the baby does not yet realize that he should not crawl or rub his cheeks or eyes. As a child grows up, the skin begins to roughen, becoming more stable, but never reaching the strength of the skin of an average person.

Prognosis for a diagnosis of epidermolysis bullosa usually unfavorable, because the disease is very rare, and doctors have practically no experience in treating such patients. A relatively favorable prognosis for life and health is possible only with mild form diseases. But not all parents can provide full care for their child, and often they themselves aggravate the situation by self-medicating and treating wounds with herbal medicines, bluing, homemade ointments and other similar means.

After such “treatment”, the costs associated with restoring the baby’s epidermis increase greatly. Wounds that appear on the skin can become infected and fester, leading to death. Therefore, for children with epidermolysis bullosa, any skin injury can be fatal.

Thus, Epidermolysis bullosa is a very dangerous disease, often leading to death. The child suffers greatly because due to non-healing ulcers on his skin, he cannot even wear clothes. If there is a genetic predisposition to this disease, then parents need to approach the issue of planning children with special responsibility.

Epidermolysis bullosa is a rare and terrible disease that affects the skin and sometimes mucous membranes.

All over the world, children suffering from this disease are called “butterflies.” The comparison is not accidental, because their skin is thin and very fragile, like an insect’s wing.

Any careless touches cause pain to the baby and leave wounds. Butterfly children suffer not only from their diagnosis, but also from the lack of knowledge among hospital staff. The child receives his first injuries when he is still maternity hospital. Sometimes they are even incompatible with life. Epidermolysis bullosa has many forms, but all of them are incurable.

Pediatrician

Epidermolysis bullosa includes a huge number of skin diseases that are inherited and have a common symptom - blisters different sizes And different quantities. They form on the skin or mucous membranes as a result of any, sometimes minimal, exposure. Any friction, touch, change in temperature and air humidity can aggravate the process.

The disease can manifest itself in at different ages. The child becomes ill while still in the womb. Most often, he is either already born with signs of the disease, or they appear shortly after birth. In all cases, it is more correct to call the disease congenital epidermolysis bullosa.

How many people have epidermolysis bullosa?

Most often, the disease is registered in children aged 1 - 5 years. Data from the National Epidermolysis Bullosa Registry, which is maintained in the United States, suggests that 1 in 50,000 newborns suffers from the disease. Over the 16 years of its existence, 3,300 people with this disease have been identified in the United States.

In Europe, epidermolysis bullosa affects 1 in 30,000 newborns. Japan has the lowest prevalence of the disease, it is detected in 7.8 out of 1 million children born.

Unfortunately, there are no official statistics on the disease in Russia. It is known that in our country, Ukraine, Belarus and Kazakhstan, there are more than 150 patients with epidermolysis bullosa.

The cause of this serious illness is mutations in the genes that are responsible for the synthesis of structural proteins of the skin. As a result, its cells lose strong connections with each other. The slightest external influences contribute to damage to the skin.

Human skin consists of several layers. The upper epidermis is represented by keratinocyte cells. They constantly divide and, as they grow, move from the underlying layers to the upper - the stratum corneum, ensuring renewal of the skin and its protection. Keratinocytes are connected to each other by special bridges - desmosomes, from which protein filaments - tonofibrils - protrude. The cells of the lower layers of the epidermis are also connected by the protein laminin.

Following the epidermis is a layer called the dermis. It includes collagen, elastic and reticular fibers, which are penetrated by numerous blood and lymphatic vessels, nerves, sweat and sebaceous glands, hair follicles. The dermis contains fibroblast cells. They are the ones who produce all the fibers that are part of the layer.

The dermis and epidermis are firmly connected by a layer - the basement membrane. It also contains collagen proteins. They are the main components of retaining threads. These threads tightly attach the basement membrane with its covering epidermis to the dermis.

Based on different clinical forms Epidermolysis bullosa is caused by structural disorders of the skin, when, as a result of mutation, the growth and maturation of damaged keratinocytes occurs, the absence or reduction of retaining and attaching protein threads. There may also be a deficiency of certain proteins involved in the structure of the skin: collagens, keratins, laminin and others.

As a result, the connections between the layers of the skin and its cells are weakened, and with the slightest external influence, damage occurs with the formation of blisters.

Classification of epidermolysis bullosa

Since the development of technologies that make it possible to determine the structure of the skin at microscopic levels and determine its smallest structures, epidermolysis bullosa has been divided into 3 groups. Later, another group of the disease was identified.

In the modern medical community, the classification of the disease consists of 4 main groups and 6 subgroups. The subgroups contain different clinical forms of the disease. They differ in the type of inheritance, microscopic changes in the skin, clinical manifestations, severity, prognosis.

So, epidermolysis bullosa can be simple, borderline, dystrophic. Kindler syndrome is a separate group. Epidermolysis bullosa simplex includes suprabasal and basal. The forms of borderline epidermolysis bullosa can be localized and generalized. Dystrophic epidermolysis bullosa can be dominant or recessive. Kindler syndrome is not divided into subgroups.

The classification takes into account the layer of skin where the formation of the bubble occurs, as well as changes in the proteins that make it up.

Manifestations of epidermolysis bullosa

Blisters, erosions of various sizes on the skin and mucous membranes are the main sign of epidermolysis bullosa. They appear due to a decrease in the skin’s resistance to various influences from external environment. This often happens when the ambient temperature, pressure and friction change. Due to the fact that the skin has an unusual structure, blisters appear, then erosions. Their healing in some types of epidermolysis bullosa can occur with the formation of rough scars.

Other manifestations of epidermolysis bullosa often include changes in skin color, keratosis on the palms and soles, contractures of small joints of the hands, and finger fusions. Less common are baldness, or partial hair loss, increased sweating, or, conversely, the absence of sweat, dental damage, difficulty swallowing, vomiting, constipation, and diarrhea.

Babies suffering from epidermolysis bullosa simplex are born with blisters on the skin, or they appear in the first months of their life. Bubbles can be seen on the hands, feet, elbows, knees, legs, and scalp. There are few or none of them in the oral cavity. Blisters and erosions are painless and heal quickly.

Nails do not change. If they are detached, they are sure to be restored. These children's teeth are healthy. The blisters heal without leaving any traces. As the child grows, they will form less and less often.

Localized epidermolysis bullosa simplex of the hands and feet is classified as basal epidermolysis bullosa simplex. It appears with the onset of independent walking. The disease can also begin in adolescents, when they begin to wear tight shoes and their feet become injured. They are most often affected. Damage to other areas of the body is less common. Their number varies, from minor rashes to huge ones that limit normal life.

Generalized epidermolysis bullosa simplex is also one of the clinical forms of epidermolysis bullosa basal. In infants, the back of the head, back, and elbows are affected. As the child grows and matures, blisters appear on the hands, feet, and areas subject to friction.

There are a lot of bubbles. They are located in groups that form foci of a variety of bizarre shapes. The mucous membranes are affected, and nails come off easily. Skin pigmentation often changes, hyperhidrosis and hyperkeratosis of the palms and soles appear. It is important that no scars remain after damage to the skin.

Typically, as the ambient temperature rises, the condition of patients with epidermolysis bullosa worsens. However, in children with a generalized form of epidermolysis bullosa simplex, an increase in temperature has a positive effect on the condition of the skin.

Borderline epidermolysis bullosa

In borderline epidermolysis bullosa, changes affect the basement membrane of the epidermis. It is divided into generalized and localized. Their common symptom is the appearance of blisters on any part of the body with extensive lesions. Changes in tooth enamel are also characteristic: it becomes thinner, and pinpoint depressions appear on the surface of the tooth. They are often susceptible to tooth decay. Borderline epidermolysis bullosa is more severe than simple epidermolysis bullosa.

Generalized severe borderline epidermolysis bullosa is also called “lethal.” This is a fatal disease, the outcomes of which are severe disfigurement and disability. The baby is born with blisters, or the age at which they appear is the neonatal period. Often the blisters are localized in the perioral area.

They are covered hairy part heads, legs, crotches, rib cage child. They rarely appear on the hands and feet, unlike other types of epidermolysis bullosa. The exception is the terminal phalanges of the fingers, on which the nails are located. The plates themselves are destroyed, peeled off and lost forever. Rashes often affect all mucous membranes.

Erosion heals very slowly. In their place, the skin atrophies and rough scars form. Due to complications, the growth of babies stops. They don't gain weight. Such children often die before they even live three years from infections, exhaustion and circulatory disorders.

Generalized moderate-severe borderline epidermolysis bullosa differs from the previous version in a milder course. Blisters can also be found in a newborn baby, but when they heal, scars do not form. Distinctive feature This clinical variant is focal hair loss and severe atrophy of the scalp. Such babies grow and develop in accordance with their age. The disease has no effect on this.

Dystrophic epidermolysis bullosa

This group of epidermolysis bullosa is classified into two subgroups depending on the type of inheritance: autosomal dominant or autosomal recessive. This means that the genetic mutation is clearly inherited. In the first case, for the development of the disease, only one mutant gene, which is present in the father or mother of the child, is sufficient. In the second case, both parents must be carriers of the defective gene, but they themselves will be healthy. But the baby will be born with a serious illness.

Dominant dystrophic epidermolysis bullosa is characterized by the formation of blisters on all parts of the body and mucous membranes from birth. In some clinical variants, blisters develop even later. They are prone to recurrence but heal quickly with scarring and hypopigmentation. This form of epidermolysis bullosa does not affect the growth and development of the child.

Recessive dystrophic epidermolysis bullosa more often than other forms of the disease leads to severe disability, although its severity may not be as severe. The blisters may be located on the hands, feet, elbows and knees, or spread throughout the body. Similar changes appear on the mucous membranes. Due to the formation of rough scars, the baby becomes disabled.

Kindler syndrome

Children with Kindler syndrome are born with blisters on the skin and mucous membranes. At an older age, photosensitivity and pigmentation appear on the skin, scar tissue forms, and nails peel off. Damage to the gastrointestinal tract and urinary tract is typical.

The development of complications more often develops in children suffering from borderline and dystrophic epidermolysis bullosa. Diseases of these groups occur in the most aggressive forms.

Extensive ulcers and erosions on the skin over time lead to the fact that it is replaced by rough scar tissue. It is characterized by poor sensitivity, poor extensibility, and the absence of sebaceous and sweat glands. The functions of the skin are lost; in addition, scars are also a cosmetic defect that disfigures the appearance.

Scar replacement of the skin of the eyelids leads to limitation of their movement. The baby will not be able to fully open or close the eye, as a result of which the organ of vision may be left without protection. The shape of the eye will also change until it closes completely. As a result, conjunctivitis, blepharitis and other inflammatory eye diseases occur. The child may lose his sight completely.

Scars in the mouth area lead to the formation of microstomia. The mouth gap tightens and narrows. As a result, the baby will not be able to open his mouth completely. The process of swallowing and speech is impaired.

Rough scar tissue in the joint area leads to restrictions on movement in them. The child will not be able to fully bend and straighten the joint, since the scar will not be able to fully stretch like regular skin. The joint often remains in the same position, and its contracture develops - stiffness.

Erosion and weeping in the area of ​​the fingers lead to the formation of scar tissue as the fingers grow together. In this case, the child’s hands permanently lose their gripping function.

Erosion on the mucous membranes can also heal with the formation of scar tissue, leading to narrowing - strictures of the esophagus, respiratory and urinary tract, and intestines. The child cannot fully swallow food, speak, breathe, urinate, and therefore will lose weight to the point of cachexia and get sick often inflammatory diseases lungs, kidneys. Absorption of food in the intestines will be impaired. This will further worsen the baby’s condition.

Ulcers and erosions on the skin are entry points for various infectious agents. Therefore, if dressing rules are not followed, it may occur. purulent inflammation skin, and sometimes systemic blood infection - sepsis.

People with epidermolysis bullosa are at high risk of developing squamous cell skin cancer.

Life expectancy with epidermolysis bullosa

The life expectancy of “butterfly children” depends on the form of the disease. The most favorable prognosis is for children suffering from epidermolysis bullosa simplex. They can even live and study fully. There is an option that with age the disease will generally recede.

Generalized borderline epidermolysis bullosa is characterized by the most severe course. Children with this form of the disease sometimes do not live to be three years old due to the development of complications incompatible with life.

In other forms of the disease, in most cases, severe disability develops. But babies still have a chance to live a long life with proper supervision and care.

Diagnosis of epidermolysis bullosa

The diagnosis of epidermolysis bullosa cannot always be made on the basis of complaints alone. To confirm or refute it, complex laboratory diagnostics are needed in large clinics. Genetic analysis is also required.

IN mandatory A skin biopsy is performed, always from a fresh bladder. The piece of skin should immediately be frozen in liquid nitrogen, or soaked in saline solution. For long-term storage a piece of skin is placed in a special transport medium. The biosample is examined under special powerful microscopes with processing contrast agents. It is possible to determine abnormalities in the structure of the skin and identify the lack of certain protein components.

Before the baby is born important role is given genetic analysis. It does not affect the treatment, but is needed by families who are already raising a child with epidermolysis bullosa and who are planning a second pregnancy.

IN modern world Epidermolysis bullosa is considered an incurable disease. Treatment and prevention actions should prevent skin trauma. To do this, the skin of “butterfly children” needs to be selected proper care. For the comfort of young patients, it is important to eliminate itching and pain.

To prevent life-threatening complications, skin infections must be dealt with promptly. If complications develop from the digestive organs and joints, they need to be corrected in time. Parents of “butterfly children” should be trained to care for them as soon as possible. Special soft plasters, bandages, ointments with silver, and antiseptics are used for it.

Usually large bubbles are opened carefully. The necessary product is applied to the resulting erosion. Then the wound is covered with a bandage. They use specialized atraumatic bandages that contain sorbent, antiseptic, regenerating and antimicrobial agents.

Special hydrogel and hydrocolloid films have also been developed. They cover erosions and ulcers, thereby preventing drying out. You can use collagen porous sponges. They can stick tightly to the wound, and come off on their own if it begins to get very wet or completely healed.

A second bandage is applied on top. Thanks to her medical bandage will fix well and sit tightly in place. The fixing bandage should not put too much pressure on the skin and should be tied tightly so as not to further injure the skin. To prevent complications, separate dressings are needed for each child’s finger. The limb should not be bent or straightened when bandaging. Dressing a baby with severe clinical variants of epidermolysis bullosa can take 1 - 2 hours.

A child suffering from epidermolysis bullosa should be seen by many specialists and regularly examined by a dermatologist, pediatrician, gastroenterologist, otolaryngologist, and surgeon. If necessary, consultations with a thoracic and plastic surgeon are required.

In some cases, antibiotic injections are necessary. The child must receive all the necessary nutrients and vitamins from food. Children are prescribed specialized high-protein mixtures. If, due to complications, the baby cannot swallow food normally, a gastrostomy tube may be installed.

The “Butterfly Children” fund has been created to help mothers and fathers of special children. He helps in the treatment and rehabilitation of children suffering from epidermolysis bullosa and purchases medications for them. If psychological and legal assistance is needed, it will also be provided thanks to the fund. Its specialists also help doctors faced with the disease.