Butterfly disease or epidermolysis bellosa. What does alternative medicine say? Epidermolysis bullosa acquired

There are enough terrible diseases in the world, many of which are “born” with the child. One of these pathologies is epidermolysis bullosa. Often children with this diagnosis are called “butterflies”. What do a beautiful insect and a disease have in common?

Photo: Epidermolysis bullosa

Characteristic

Epidermolysis bullosa (EB) is a concept that characterizes a whole complex of skin pathologies of a genetic nature. When the disease occurs on the skin and mucous membranes, blisters form. Rashes appear even with slight pressure or trauma to the skin. Simply put, The skin of a child with EB is very similar to the extremely delicate wings of a beautiful insect.

Why is this happening? From a scientific point of view, everything is simple: the outer and inner skin layers of a healthy person are connected to each other by fibers formed as a result of the interaction of proteins. “Butterfly” children are deprived of this layer due to a genetic defect. As a result, the level of protein in the skin decreases, or the connective fiber is simply absent.

Photo: Skin structure in epidermolysis bullosa

Epidermolysis bullosa is not a contagious disease.. It is inherited from relatives. The only thing that can also have an impact on the further development of a terrible pathology in a child is infectious diseases contracted by the mother during pregnancy.

Forms

The term epidermolysis bullosa should be understood as several forms of the disease, differing in terms of course, manifestations and prognosis.

Considered less dangerous simple congenital form. The disease is transmitted from generation to generation. Diagnosis of the disease in a child occurs immediately after birth or a few days later. Determined that girls get sick less often than boys.

The simple form of the disease is characterized by the formation of blisters filled with serous fluid. They occur on areas of the skin that have been subjected to friction or pressure. The first traumatic factor is the process of childbirth. Rashes develop in places that are in close contact with the birth canal. The size of the bubbles varies from a few millimeters to several centimeters. The surrounding skin remains unchanged.

Photo: Simple congenital form

Often blisters appear on the hands, elbows, knees and shins. The mucous membranes are also affected, but much less frequently. The nails remain completely intact.

The opening of the bubbles occurs naturally or artificially. After their disappearance, no defects remain on the skin, but temporary pigmentation is present.

With a simple form of the disease, the child does not lag behind in development. But the negative impact on the skin increases by the age of one year, when the child begins to take active actions. By puberty, signs of the disease practically disappear.

Looks more dangerous dystrophic form illness. Its manifestation begins a few days after birth. The formation of rashes affecting large areas of the skin is not always associated with mechanical action - they can occur completely spontaneously. Sometimes the blisters are filled with bloody contents. After opening, ulcers or scars form in their place. The skin and mucous membranes are affected, the nails suffer (sometimes their disappearance occurs too quickly). In some cases, the child's development remains completely normal.

Photo: Dystrophic form

In rare cases, with this form of the disease, body parts are rejected. The phalanges of the fingers are especially affected. Children with the dystrophic form of epidermolysis bullosa may develop dental anomalies and hypotrichosis.

Children with this diagnosis are not able to

The fatal form of the disease is considered malignant. It is diagnosed immediately after the birth of a child and manifests itself as bleeding wounds throughout the body. In addition, bubbles form on the mucous membranes of internal organs. As a rule, the child immediately catches a pyococcal infection, which is followed by sepsis and death.

Is there a chance for recovery?

Unfortunately, humanity has not yet invented a miraculous pill for such a terrible disease. But, as noted earlier, with a simple form of the disease, the child and his parents may well hope for a favorable prognosis. Sitting idle will certainly not work. The disease requires a lot of work from parents and doctors, based on providing symptomatic care to the sick child. It consists of caring for the affected areas of the skin in order to prevent purulent complications. The latter are too dangerous for a child, especially at an early age.

Photo: Special care for baby's skin is required

Before putting any clothes on a child, even underwear, he will have to bandage with special bandages that do not stick to the skin. The dressing process is painstaking and lengthy, sometimes taking several hours. Moreover, in exceptional situations, the child’s parents have to perform dressings 2-3 times a day. You will also have to use a special moisturizer. The product is vital for children with thin skin.

External skin care for a sick child consists of the following:

the bubbles must be opened with a sterile needle on both sides;
antiseptic drugs are used to treat affected areas, including Eosin and Fuchsin;
when erosions form, it is necessary to apply heliomycin ointment or antibiotic-based products.

Physiotherapy has a good effect in caring for a child diagnosed with epidermolysis bullosa.

The baby butterfly disease, of course, occurs not only in Russia. Foreign doctors, for example, claim that with proper care for a special child and the use of high-quality dressings, the diagnosis will not become an obstacle to getting an education and starting a family. Unfortunately, in Russia the situation is somewhat different. The treatment prescribed is largely experimental, and the attitude towards children diagnosed with “butterfly syndrome” is no less specific than towards those affected by Down syndrome. The only hope for families who have had to face difficult trials is special funds.

What does alternative medicine say?

Traditional medicine in the case of such a disease cannot promise a great effect. However, it is possible to alleviate the child’s condition. For this purpose it is recommended chamomile baths, strings and decoction oak bark. Baths with potassium permanganate and olive oil have a good effect. Sea buckthorn oil is used to treat affected areas of the skin.

Epidermolysis bullosa is a 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. In simple terms, the skin of a baby with 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 and digestive tract, which is why eating rough, ungrinded food can cause injury. In extremely severe cases, babies cannot even drink milk due to severe pain, dying from 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 immediately becomes infected with 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 skin care for 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 the birth canal, the skin of sick children is removed, like that of 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 a mild form of the disease. 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 phytotherapeutic drugs, 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.

There are many pleasant moments while expecting a child, but almost every expectant mother at least once during her entire pregnancy is haunted by the fear of giving birth to a sick baby. Fortunately, statistics on the birth of children with congenital diseases still allows us to hope only for the best, but sometimes newborns are born affected, in particular, by such a rare genetic disease as epidermolysis bullosa, or butterfly disease.

How does epidermolysis bullosa manifest in children?

Epidermolysis bullosa (EB) is a hereditary disease that manifests itself in the form of erosions and blisters on the mucous membrane and skin after the slightest damage or even without them. In a healthy person, the epidermis - the outer layer of the skin (epidermis) - is connected to its deeper layers (dermis) using special fibers (“anchors”).

But when EB is affected, these connecting components are very weak or absent altogether. As a result, after any physical or thermal impact, contact with chemicals on the skin, the epidermis peels off and an open wound is formed, which must be immediately closed with a special dressing.

Careless touching of butterfly children can result in unbearable suffering for them

Epidermolysis bullosa received the romantic name “butterfly disease” due to the comparison of the patient’s skin with the fragile and delicate wings of this insect.

The skin of sick babies is as fragile and delicate as the wings of a butterfly.

How and why epidermolysis bullosa occurs

The main cause of the disease is defective genes. But not all, but only those that are responsible for regulating the structure of proteins that form mucous membranes and skin, as well as guaranteeing their strength.

The main and only cause of epidermolysis bullosa is gene mutations

Genetic material can be damaged during pregnancy or conception, or transmitted in defective form from carrier parents. Factors that provoke gene mutation are:

viral diseases suffered during pregnancy or at the time of conception;
increased radiation and other radiation;
exposure to toxic substances, etc.

Epidermolysis bullosa is not gender specific and can affect male and female newborns equally. The disease manifests itself already in the first days or weeks after birth.

The disease appears almost immediately after birth

When and how does the disease begin to manifest itself?

Depending on the form of the disease, the child can either die soon after birth or become disabled due to severe complications, or lead an almost normal life, provided proper and timely treatment. Although there is still active debate among doctors regarding the study of BE, there is already a more or less clear systematization of it. So, depending on the degree of damage to the skin and mucous membrane, as well as the location of the blisters, the following forms are distinguished:

Epidermolysis bullosa simplex (EBS) - blisters appear in the upper layer of the skin, which also thickens due to the disease. There are localized and generalized forms. In the first case, the disease manifests itself in adolescence in the form of blisters on the feet and hands, but already in infancy, erosions and blisters can form on the mucous membrane. In the generalized form, blisters can be located in groups in different parts of the body, the disease affects the urinary system, genitals, esophagus, and the development of cancer is possible;
Dystrophic epidermolysis bullosa (DEB) can be transmitted dominantly or recessively. The first option is characterized by the formation of blisters on the mucous membranes, hands, knees, and elbows. In the second case, the esophagus may narrow, skin cancer may occur, the eyes may suffer, anemia may appear, or the fingers on the lower and upper extremities may grow together;
Epidermolysis bullosa borderline (EBB) manifests itself in two types - Görlitz and non-Görlitz. In both cases, bubbles form over a large area anywhere. There is a high probability of extracutaneous complications - the oral opening narrows, the tongue grows to the lower part of the mouth, the esophagus and upper respiratory tract narrow, the child’s development is delayed, anemia occurs, etc. The main difference between the forms is that the first subtype is characterized by a more complex course and more often leads to death;
Kindler syndrome is characterized by the formation of blisters even before the child is born, and they are localized on all layers of the skin. As you grow older, sensitivity to ultraviolet radiation appears, the skin atrophies with the simultaneous appearance of strong pigmentation, the disease affects the nails, atrophic scars appear in place of the blisters, the esophagus narrows and the genitourinary system is affected.

It is very simple to detect the birth of “butterfly babies” - already in the first hours after birth, even from their clothes, blisters appear on their skin, which quickly burst, leaving behind an open wound.

One of the severe complications of epidermolysis bullosa is the fusion of the fingers on the child’s extremities.

Is it possible to cure pathology?

Unfortunately, epidermolysis bullosa cannot be completely cured - all that remains for parents and the patients themselves is to carry out symptomatic treatment. In addition, proper care for a child from infancy can significantly facilitate his adult life - and allows him to enter it, and not die in suffering! The optimal outcome of treating butterfly children is considered to be a roughening of the skin and a decrease in its sensitivity to various irritants.

There are several treatment methods for epidermolysis bullosa:

Protein treatment - the patient is injected with a certain amount of non-defective protein and type 7 collagen.
In gene therapy, a piece of skin with a transgene - a corrected gene - is transplanted into the patient.
Butterfly babies can be given a certain number of cells from a healthy donor that contain the normal gene. During this treatment, donor fibroblasts produce collagen, which is necessary for holding the dermis and epidermis together. Fibroblasts are connective tissue cells.
In combination therapy, skin grafts are created consisting of fibroblasts from a healthy donor and keratinocytes from a patient. This can significantly reduce the likelihood of donor material rejection. Keratinocytes are the main cells of the skin, making up 90% of its composition.
Bone marrow stem cell therapy is an effective treatment that either routinely injects healthy donor cells or reprograms the patient's skin cells to produce non-defective stem cells.
Symptomatic therapy consists of prescribing painkillers, broad-spectrum antibiotics, antianemic drugs, prescribing selenium and carnitine preparations for cardiomyopathy, etc.
In drug therapy, drugs are used that serve two purposes:
- “knockout” and replacement with siRNA (short interfering RNA), i.e. suppression of the activity of a defective gene;
- preventing the premature cessation of protein synthesis, which is triggered by defective genes.

An integral part of the life of butterfly children is daily bandaging using special material and moisturizing creams, without which the life of a sick baby can become hellish torment. On average, this procedure can take 3–5 hours. The cost of bandages and creams alone for a mild form of EB costs 30 thousand rubles, for a severe form such costs reach up to 150 thousand.

Without daily bandaging, butterfly children will not be able to live a normal life due to constant pain

In Russia there is a fund to help such kids, which is called Butterfly Children. It is a member of the international association DEBRA.

Prevention of the disease and its diagnosis during pregnancy

Since epidermolysis bullosa is a hereditary disease, prevention is impossible. All that remains is for future parents to refrain from having children or conduct prenatal diagnostics if they have a history of EB.

Epidermolysis bullosa can be detected using DNA diagnostics, also called molecular diagnostics. To determine the syndrome, it is necessary to take amniotic fluid.

With epidermolysis bullosa, genetic tests are the only way to find out about the disease before the birth of the child.

Such expensive tests are justified if, as already mentioned, one of the parents suffers from butterfly disease or there is a child in the family with a similar disease. It is advisable to diagnose the sick spouse at the pregnancy planning stage in order to find out which gene may be damaged. Then it is possible to do a quick analysis of the fetus at a time when abortion is permissible. This is explained by the fact that searching for a defective gene can take up to 2 months. For analysis of EB, chorionic villi are taken from the fetus at 9–11, maximum 12 weeks..

With a severe form of the disease, the child may die immediately after birth; with mild and moderate subtypes of EB, the patient in our country can live up to 18–25 years. At the same time, in Western countries, those suffering from “butterfly disease” sometimes live up to 40–45 years. It all depends on the severity of the disease and the presence of complications.

Video: how butterfly children live and are treated in Russia

Although epidermolysis bullosa is a serious hereditary disease, its proper treatment gives the patient hope for a decent life without pain and suffering. The main task is to find competent doctors who can provide adequate therapy. And in terms of finances, in the absence of large incomes, one can only rely on charitable foundations and the help of private sponsors.

Human fear is often hidden behind a beautiful name. We are afraid of illness, death, and the infirmities of old age. Sometimes we are even afraid of happiness, because deep down we understand that it is not eternal and will entail constant difficulties. Therefore, the greatest human joys are always in close proximity to pain and horror. For example, childbirth and butterfly syndrome. How are they connected and why are they scared?

Like a butterfly's wing

What associations emerge when you mention this gentle creature? Of course, lightness, beauty, grace. There is probably no person who has a negative attitude towards butterflies! But, alas, butterfly syndrome turns into a serious problem for humans. Otherwise, this disease is called epidermolis bullosa and affects human skin. She becomes so tender that she reacts to the lightest touches. At the slightest contact, the skin becomes blistered. But it's not so much about aesthetics. After all, butterfly syndrome is a disease that also affects internal organs. A person is just as fragile from the inside; he cannot take solid food, since lumps can damage the esophagus. Constant vigilance and caution darken the life of the patient.

Risk to others

It must be said right away that the insidious epidermolis bullosa is not contagious and is transmitted to the child from the parents. So the only risk is a genetic predisposition to the disease. Many horror stories blame the disease on the bad habits of parents, their lifestyle and past illnesses.

But in this particular case, these factors do not affect the presence of the disease, although, of course, they do not have a positive effect on the baby’s health. Neither regular exercise nor a well-thought-out diet can protect your child. It's all about your genes. If there are people in your family with a similar disease, then you should not neglect regular examinations with a doctor. Even if it is not possible to prevent the disease, there is always a chance to protect your baby from negative influences from the outside.

"Tender" illness

In biology lessons, we gradually study the structure of the human body and learn that the so familiar human skin is in fact a surprisingly complex organ. It consists of outer and inner layers, connected to each other by special fibers. The latter arise when a number of protein compounds come into contact. The epidermolis bullosa in question is a genetic defect. It is based on a decrease in the amount of proteins and, accordingly, low adhesion of the epidermis to the dermis. The consequences are quite logical, because any touch causes excruciating pain; Bubbles and blisters appear, turning into scars. Healing is long and painful.

In the language of doctors

It turns out that there are several special medical terms related to butterflies. For example, in the first trimester of pregnancy, the butterfly symptom is important on ultrasound, that is, the uniform development of the hemispheres and ventricles of the baby’s brain. An adult may develop erythema butterfly, which is an alarming symptom of lupus erythematosus. As a rule, it manifests itself as redness in the area of the nose, shaped like a butterfly. Finally, the notorious one is the most serious disease.

Fortunately, it remains very rare, but nevertheless, this does not make it any easier for its owners. To imagine the danger of the disease, think about how fragile the wings of a butterfly seem in our hands. If touched roughly, they die, unable to cope with the damage; their wings lose strength when in contact with human fingers. Will a butterfly be able to fly after being caught by a person? Hardly.

At home

There are some guesses regarding the nature of the disease. Thus, the disease is most often present in families with a series of related marriages. This can be explained by the similarity of genotypes and the absence of opposing genetic inclusions. Patients live very short lives and often die from skin infections and mucosal lesions. Caring for patients is very difficult, because they can perform the most ordinary procedures with pain, are not able to wear ordinary clothes and eat ordinary food. Butterfly syndrome is insidious, and sufferers cannot be completely cured. It is up to those around you to create the most comfortable living conditions, help you adapt and make your daily exercise easier. Modern technology makes it possible to identify butterfly syndrome in the fetus. In this case, natural childbirth is excluded, since the skin of a child is already an order of magnitude more delicate than the skin of an adult, and therefore the body of a small person cannot withstand childbirth.

In some clinics, doctors who diagnose butterfly syndrome during pregnancy suggest terminating it or performing an emergency birth. The choice depends on the parents and the woman in labor, first of all. Childbirth involves serious risks, and therefore it is better to think about the situation.

Forms of the disease

Any illness has several forms of severity. The case of epidermolis bullosa is no exception. The simple form is inherited dominantly and appears at birth. This is the most successful option, since the skin remains most sensitive during adulthood. The hyperplastic form is sadder. It is transmitted recessively, is difficult to pass and leaves scars on the body. The percentage of deaths is high, and plastic surgery is often used to correct appearance. Finally, the most severe is the polydysplastic form, which is also inherited in a recessive manner. The first symptoms appear at birth, when passage through the birth canal results in injuries and the appearance of blood blisters on the skin. As a negative bonus, there is damage to the mucous membrane, impaired development of bone tissue and a high mortality rate at an early age. Death is painful, so doctors may suggest artificial termination of life.

How to treat a patient?

Despite all the difficulties, you can help the patient.

Let's consider what is butterfly syndrome in a child? This is his fragility and tenderness, the inability to resist the aggression of the outside world. Protect it from falls and impacts. Before going outside, use special bandages to wrap around your body. Only after this procedure can the child be dressed. It's hard, but real. Especially if you want to make life easier for your dear defenseless little person.

How can you recognize butterfly syndrome? Photos of sick children are terrifying, because there is no living space in them. In particularly serious cases, the skin swells at the slightest touch, which causes pain. Caring for the sick cannot be entrusted to an amateur, so families with such a special child are better off trusting trained nannies. The child cannot even be bathed, as the water is dangerous. But this requires constant hygiene and regular treatment of the skin with an antiseptic.

Update: October 2018

Human skin is an important anatomical structure and plays a 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 the development of skin diseases, not only the skin, but also 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 is also called butterfly disease, but not because sick children grow wings, but because their characteristic excessive fragility and vulnerability of the skin (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. The German dermatologist Heinrich Koebner suggested calling the disease this term. 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.

Causes

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 of a borderline form of the 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 the slight formation of 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 of 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 blisters at the level of the lamina lucidum, this form is 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

The leading clinical sign of the disease in any form is the appearance of blisters in response to minor mechanical trauma. 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. The 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, the blisters heal 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 a complete absence of 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. Such 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 oral 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 Herlitz syndrome is very high; the child dies from respiratory failure (formation of a bubble on the mucous membrane of the 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 themselves in the form of acute colitis, esophagitis, narrowing of the urethra, and eversion of the eyelid. Teeth remain fine.

Life expectancy of patients

How long do butterfly children live? It is difficult to answer this question unambiguously. 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 in 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

The diagnosis of this disease is made based on the collection of medical history and complaints, a general examination of the patient and is confirmed by laboratory tests. For laboratory analysis, it is necessary to conduct a histological examination of a section of skin taken from the site of injury where the 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.
Electron microscopy is used to determine the subtype of the disease. Ultrastructural changes in the skin biopsy are detected and the state of cellular and extracellular formations is assessed.

Also, to diagnose epidermolysis bullosa, related specialists are involved (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 that increases sweating, sudden movements and traumatic situations is prohibited.

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). Clothes should be layered to help keep you warm and prevent 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, there are no special contraindications. Vaccinations are not given only if the patient is not feeling well (complication of 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 diagnosis of genetic diseases, including epidermolysis bullosa, exists and is currently active in Russia. 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 is indicated for couples who already have a sick baby or if one of the parents has a confirmed illness.

Question:
Is disability indicated for patients with epidermolysis bullosa?

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