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Causes of epidermolysis bullosa, treatment of the disease, life expectancy - butterfly children

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Human skin is an anatomical structure that performs the function of protection for the human body from infections, overheating and overcooling, regulation of water and salt metabolism. But with the development of skin disease, all organs as a whole suffer.

Epidemiology

On the territory of the Russian Federation, the incidence rate for epidermolysis bullae is equal to 1:50 thousand - 1: 300 thousand people with various shades of the disease. Gender trait does not matter. Patients are dominated by registered patients of childhood and adolescence. Mutations affect more than 10 genes. ICD-10 Q81 code.

Congenital epidermolysis bullosa has about 30 forms of illness. Life expectancy with epidermolysis bullosa - butterfly disease - is about three years.

Epidermolysis bullosa is a hereditary type of disease characterized by the formation of erosions and blisters on the skin and mucous membranes. The peculiarity of the pathology is that people with vulnerable and sensitive skin are susceptible to it: even a weak mechanical effect on it causes severe irritation. Pathology is called butterfly disease due to increased skin vulnerability.

This rare disease appears immediately after birth, it cannot be cured or prevented. Improper treatment and care create conditions for the penetration of infection with subsequent tissue necrosis.

After overcoming a critical turn, the skin becomes denser, but never reaches the normal level of strength.

The so-called "butterfly disease" is hereditary, transmitted by a dominant or recessive trait. Causes - gene mutations, resulting in proteins are destroyed by the action of enzymes.

Damage occurs on the principle of shear between the upper and lower layers of the skin. Normally, the skin layers are combined with the help of a bonding agent, due to which it performs a protective function. In the absence of such bonding, the outer layer delivers a lot of pain, flakes and separates from the inner.

Type of disease and genes:

  • normal BE - mutations of the KRT5 and KRT14 genes,
  • dystrophic BE - affects the COL7A1 gene,
  • borderline EB - LAMB3, LAMA3.

If buller epidermolysis occurs in the presence of autoantibodies to the components of the basement membrane of human skin and animals, we are talking about an acquired ailment.

Forms of the disease

A simple type of illness develops from birth. The outer layer of the epidermis becomes blistered with serous contents, and after they are opened, no traces remain on the skin. The nails of the child are in good condition, the disease makes itself felt at a time when the baby begins to learn to move. Secondary infection occurs.

There are types of diseases that differ in their severity and localization (simple, borderline, dystrophic, mixed).

1. A simple form of epidermolysis bullosa (common subtypes).

  • Localized: the defeat of the hands and feet, summer exacerbation, common in childhood, symptoms fade with age.
  • Generalized: the most severe, it is characterized by the presence of bubbles throughout the body, resembling a rash in herpes. The list of manifestations - skin thickening on the palms and feet, severe skin pigmentation, nail dystrophy, hard acne, damage to the mucous membranes. Complications can lead to laryngeal stenosis, growth retardation, death.
  • Spotted: similar to simple EB, characterized by the opening of the bubbles, the appearance of age spots. Localization - neck, armpits, groin.
  • Nonherpetrified: localization is different, blisters are solitary.

  • Hertlitz type: the most severe, characterized by many blisters and scars, loss of nail plates, underdevelopment of tooth enamel, damage to the oral mucosa, proliferation of granulation tissue in the mouth, nose, on the back, in the armpits, on the nail rollers. Complications: anemia, narrowing of the gastrointestinal tract, growth retardation, damage to the respiratory organs, urinary tract, kidneys, eyes, hands. Due to loss and low weight gain, sepsis, pneumonia, epidermolysis bullosa in newborns can lead to death.
  • Non-hertlitz type: blistering, crusts, erosion, skin atrophy, cicatricial alopecia, loss of nails, enamel hypoplasia. Death is possible due to sepsis and stunted growth.

Damage to the papillary layer of the skin with the formation of scars and erosions, it is possible to limit movement, damage to the mucous membranes.

According to the principle of inheritance, the disease of the specified form is

  • dominant - with skin lesions with blisters, atrophic scars (mainly of the hand and foot), and dystrophy of the nail plates. Complications: blisters mucous GIT,
  • recessive - difficult to treat subtype of Allopo-Siemens (extensive defeat by blisters, erosions, nail dystrophy, spliced ​​fingers), the second - non-Allopo-Siemens subtype, amenable to therapy (bubbles are located on the arms, torso, folds).

In case of recessive bullady, epidermolysis undergo changes in the hands, there may be damage to the gastrointestinal tract, the urogenital system, anemia, osteoporosis, and developmental problems are possible. Patients have a high risk of deterioration.

4. Mixed, Kindler's syndrome.

In the presence of this form, a child who suffers from epidermolysis bullosa suffers from skin lesions of all levels, and from birth has a high sensitivity to the sun. The number of bubbles decreases, but the sensitivity remains the same. The skin of the hands is thinned to the transparency and visibility of the blood vessels. Other symptoms: inflammation of the gums, dystrophy of the nails, narrowing of the lumen of the gastrointestinal tract, pseudosindactyly of the fingers, progression of skin cancer.

Acquired epidermolysis bullosa

The disease manifests itself in adults when the feet and palms are affected: blisters appear on them, as a result of which scars appear.

Types of acquired EB:

  • classical: blisters appear on clean skin, more often - in the crook of the elbows, knees, on the arch of the foot, after the opening of which there are reddening, areas of scar atrophy. Mucous membranes of the mouth, nose, esophagus, conjunctiva, anus, vagina,
  • inflammatory: vesicles in open areas, predisposed to merge, urticarial, papular rash is not excluded.

Diagnostics

The diagnosis is determined in the center of the epidermolysis bullosa on the basis of history, complaints, examination of the patient, laboratory tests. Conduct a histological analysis of the affected skin, thereby confirming the presence of a subepidermal cavity. But these data are not enough to determine the exact type of epidermolysis bullosa.

Produce indirect immunofluorescence (NRIF), transmission electron microscopy and using the skin biopsy set the dynamics of the synthesis of skin proteins. NRIF determines the degree of skin damage, the formation of a bubble.

In the diagnosis is important to determine the degree of protein deficiency and the formation of bubbles.

The method of electron microscopy clarify the subtype of the disease, determine ultrastructural changes, assess the state of cell formations. Allied specialists take part in the diagnosis: therapist, cardiologist, surgeon, gastroenterologist, hematologist, dentist, oncologist, otolaryngologist.

Patients: the story of Lisa Kunigel

From the first days of the little Lisa happened to experience pain from skin lesions associated with any movements and care procedures. This emerging blood around the mouth during feeding, the wounded navel, the area of ​​the velcro pads, the contact areas between the toes and the other surfaces of her skin remained vulnerable to the confusion of the doctors.

The diagnosis was not made immediately, antibiotics caused dysbacteriosis, the treatment became more complicated, while the child also needed a specific diet. And care for the baby was also not easy, given the constant injuries due to the first gestures, cutting teeth, rubbing the peephole when the girl wanted to sleep.

In accordance with the RusFund program, Liza Kunigel allocated funds that would only partially be enough to cover the costs for examination and treatment at the German Center for Epidermolysis Bullosa. The girl is 11 years old, her mucous membranes are constantly injured and completely defenseless. For this reason, any medical assistance is not possible, including dental treatment.

Thanks to the Rusfond, Lisa Kunigel (Latvia) regularly visits the German clinic of Dr. Freiburg, where she is provided with the necessary therapy. Currently, the girl is not able to eat. Lisa Kunigel suffers aggravation: mucous membranes of the esophagus are affected, anemia is present, exhaustion, the temperature is constantly high, and the wounds do not heal for many months.

In the Kunigel family, besides Liza, there are still three children, a non-working mother and father — a military retiree. The funds, including the pension for the sick child and the income of the head of the family, are not enough for the vital needs. According to the head of the department of the Center for Epidermolysis Bulb Freiburg, if the girl is deprived of examination and therapy, her condition will rapidly deteriorate, muscle atrophy threatens, the inability to even drink water. Properly chosen treatment will prolong the life of Lisa Kunigel and help her get rid of acute pain.

There is currently no universal treatment for healing. Adults are offered symptomatic treatment using steroid hormones, cytostatics, immunoglobulins.

The main treatment involves the prevention of skin trauma, the prevention of an increase in volume of bubbles, the timeliness of diagnosis, the elimination of complications.

Symptomatic treatment procedures:

  • anabolic drugs
  • general antibiotics,
  • blood plasma transfusion
  • vitamins.

Skin Therapy:

  • non-adhesive dressings, loose on the skin, removed without effort,
  • collagen, hydrocolloid coatings, tight and creating conditions for effective healing,
  • moisturizing agents to improve keratinization, increasing resistance to damage,
  • bioplastic materials equipped with regenerative properties, containing substances resembling the skin in structure, providing drainage and promoting healing,
  • Transplanting keratinocytes that produce active substances for skin renewal.

  • protein treatment - protein injections with normal structure and functions that replace the affected,
  • gene - replacement of defective genes by transplantation or with the help of pharmaceutical agents for the regulation of processes in DNA,
  • cellular - the introduction of cells that replace the function of damaged.

Patient care

For a sick child, a protective regime is assumed: physical loads are excluded, which increase perspiration, vigorous movement, creating traumatic situations.

Patients need a specific diet: ground food at room temperature, semi-liquid consistency, not containing spices. Products must be enriched with proteins, fats and carbohydrates, minerals, vitamins, which is necessary first of all as building materials for healing erosion. The patient needs strict adherence to the drinking regime, especially given the amount of moisture loss in the affected areas.

There are requirements for clothing and footwear: the products should not limit movement, not rub, do not squeeze the skin. Priority is given to natural fabrics. Multi-layer clothing ensures the presence of air and the maintenance of a stable temperature; The underwear is sewn on.

Tight zippers and belts are not allowed. Shoes are recommended without a lot of decorations and minor details, preferably with velcro, rather than a zipper, it should be easy to put on, perhaps, to have bandages on the legs.

The outcome of the disease depends on the depth of gene mutation and the type of epidermolysis bullosa. A newborn baby butterfly tends to have a short lifespan. Risk increases with improper care and re-infection.

The answer to the question about the prospects for the state of children suffering from epidermolysis bullosa, including Lisa Kunigel, is ambiguous. Life expectancy is directly proportional to the form of the disease, the degree of damage to the gene structure, the depth of the skin lesion, the general condition of the patient. Unfortunately, children are difficult to reach school age, it requires a lot of effort and courage. Nevertheless, the mild forms of epidermolysis bullosis transform over time into stable remission, and blisters appear only as a result of skin trauma.

The simple forms of the disease leave more chances of longevity in case of bulla epidermolysis. Adults are subject to periods of exacerbations with remission, the prognosis is better compared with children, the outcome depends on the extent of the disease and the complication of the infection.

Dear readers, to participate in the action of helping those who are in dire need of it, subscribe to the RusFund channel in Telegram. Help Lisa Kunigel!

The concept of epidermolysis bullosa and its causes

Bullosa epidermolysis is a chronic pathology that is transmitted at the gene level. The main symptom is the appearance on the surface of the epidermis and mucous weeping sores and blisters. The skin becomes completely unprotected from mechanical contact, it causes an immediate reaction - the formation of rashes.

The butterfly disease is inherited, its development is not affected by the course of pregnancy and the infectious diseases of the mother during this period. In this case, parents can be completely healthy, but one of them or both have a mutation of genes. This is the main factor in the appearance of epidermolysis bullosa in a child. During conception, a special combination of genes occurs, which causes illness.

According to the type of combination of genes, two pathways of inheritance of pathology are distinguished - dominant and recessive. It can manifest itself in the first days of a baby’s life or within a few months from the moment of birth.

Congenital

Congenital epidermolysis bullosa manifests itself immediately after the birth of the baby. Erosive eruptions spread throughout the body and even affect nails. After carrying out drug therapy education successfully pass, leaving no trace.

In the summer and when the child is too active, the congenital epidermolysis bullosa develops more actively, so parents should pay special attention to such circumstances. In adolescence, the symptoms of the disease often subside on their own, and proper treatment successfully helps to stop congenital epidermolysis.

Acquired

Acquired epidermolysis bullosa manifests itself in an adult. The disease affects the mucous membranes and skin, feet, digestive tract. Appearing bubbles cause discomfort, the person is experiencing severe pain.

Therapy is not always effective, as acquired epidermolysis is difficult to treat. Synthetic hormones are often prescribed to such patients. This helps to achieve remission and increase its duration.

Dystrophic

Dystrophic form of epidermolysis bullosa manifests itself from the first days of a baby's life. It is characterized by the formation of erosive formations that cover large areas.

As the child grows, the rash spreads over the entire surface of the body. Dystrophic epidermolysis affects the skin and mucous membranes, internal organs. Bubbles can be found on the feet, hands, knees, etc.

Over time, the rapid course and growth of ulcers leads to complications:

  • shortening of limbs with fastening at a certain level,
  • compression of the esophagus,
  • problem swallowing,
  • to reduce the bridle and narrowing the oral slit (we recommend reading: do babies need to trim the bridle?).

In case of dystrophic type of epidermolysis bullosa, the risk of skin cancer formation remains, which leads to an increase in mortality among patients.

Borderline

The boundary type of epidermolysis is on the border of the dystrophic and simple forms. There are two subtypes - Gertlits and Not – Gertlits. The first of these is characterized by a severe course and a high mortality rate.

Regardless of the type of borderline form, bubbles form on any part of the body and are distinguished by their scale.

What is Kindler's syndrome?

In Kindler's syndrome, the baby is born with bubbles that have already formed on the skin. In the future, the lesion covers even larger areas of the epidermis. The child develops sensitivity to light, pigmentation and atrophy of the upper layer of the skin, scars are formed on the nails. Complications are transferred to the internal organs of the patient (gastrointestinal tract, urogenital system).

Diagnostic methods

Diagnosis of epidermolysis bullosa is carried out before and after birth. Постнатальное обследование осуществляется двумя методами — иммунофлюоресцентным генетическим картированием и электронной микроскопией.

Чтобы произвести любое из исследований, пациенту делают биопсию. Забор производится на пораженном и здоровом участках эпидермиса. Then, the presence of specific skin proteins is detected and its component composition is determined to establish the cause of the development of bullous epidermolysis.

If certain mutations were found, then they additionally carry out DNA analysis, establish genetic changes and the path of inheritance. For diagnosis prior to the birth of a baby, amniotic fluid is examined, which is taken after 17 weeks of gestation. Using DNA analysis, the damaged gene is determined.

Features of treatment

Treatment for epidermolysis bullosis is prescribed only after immunofluorescence analysis. Regardless of the form and course of the pathology, the therapy of such patients always includes several methods. They allow you to achieve long-term remission, but for their complete recovery is not enough.

Since this is a systemic pathology, a team of doctors (surgeon, gastroenterologist, dermatologist, oncologist, psychologist, etc.) is responsible for overseeing patients. Used immunostimulating drugs and drugs that improve the processes of metabolism.

It is necessary to monitor nutrition. In the daily diet should be a large amount of protein, in the priority of high-calorie food.

Drug therapy

Drug treatment is used in the form of oral medications and topical medications. Use such medications as:

  • analgesics,
  • multivitamin
  • antibiotics
  • drugs acting at the gene level.

Doctors assess the general condition of the patient and the extent of skin lesions. Usually drugs prescribed in a complex. The main goal of therapy is to achieve remission (for this purpose, hormones are prescribed) and to eliminate all unpleasant symptoms. While maintaining the danger of the formation of sepsis and other complications, the doctor prescribes antibiotics and anti-shock drugs.

Maintaining the condition of the skin

Be sure to make external treatment of erosion several times a day to prevent the development of sepsis and skin cancer, to eliminate the formation without scarring of the epidermis. Young children additionally bandage treated areas - this avoids increased injury to wounds.

The resulting bubbles open and pump out the contents. Then they are treated with special solutions and ointments, after which they impose non-stick materials and bandage.

Other treatments

Modern methods of therapy are also used to prevent recurrence of the epidermis. These include:

  • stem cell use
  • protein therapy (helps to effectively restore collagen fibers),
  • cell therapy (donor cell injection),
  • gene therapy (entering a healthy gene that is damaged in a patient).

How many "butterfly children" live?

Complicated course of the disease leads to other sad consequences, for example, disability from childhood (with dystrophic type).

With a simple course of epidermolysis bullosa, a positive prognosis is observed - patients live a normal life. Periodically, it is necessary to carry out appropriate therapy and not to forget about preventive measures so that the pathology is in remission.

There are no proper conditions for such patients in Russia, so not all parents are able to cope with the disease and help their baby. This is the story of a boy named Nikoloz, who suffers from bullous (congenital) epidermolysis. He lives in one of the children's homes of the city of St. Petersburg. He is now six years old, and in his development he is in no way inferior to his peers. Together with the Children of BELA foundation, Nikoloz successfully copes with epidermolysis bullosis.

Possible complications of the disease

When wounds appear, you should carefully monitor their condition and pay great attention to their treatment, since there is a danger of infection. Some types of epidermolysis bullosa can lead to the following complications:

  • esophageal stenosis / obstruction,
  • violation of the gastrointestinal tract,
  • muscle dystrophy,
  • swallowing disorder,
  • eyelid deformity
  • cardiovascular pathologies,
  • fusion of fingers
  • shortening of limbs
  • nail damage,
  • diseases of the oral cavity.

Preventive measures to prevent complications

To avoid the development of complications and exacerbation of epidermolysis bullosa, it is recommended to follow certain rules. For prevention should:

  • wear comfortable clothes and shoes,
  • observe the rules of bathing and care for the oral cavity,
  • follow a special diet,
  • constantly carry out medical supervision,
  • undergo a course of treatment.

General information

Bullosa epidermolysis (pemphigus hereditary Broca, EB) belongs to the group of hereditary diseases characterized by the formation of blisters on the skin and mucous membranes.Such a pathology results from even insignificant external pressure on the skin, which has resulted in another disease name - mechanobulse.

There are many varieties of the pathology under consideration, therefore there are different classifications of it. So what is it - epidermolysis bullosa, what types it is divided into? The most modern is the division of BE into four types:

  • plain,
  • borderline
  • dystrophic,
  • mixed (Kindler syndrome).

In addition, each type has a large variety of clinical manifestations. This explains some of the difficulties in the diagnosis of these diseases.

Important. The causes of epidermolysis bullosa are not yet fully understood. The disease is a hereditary, and only this type of epidermolysis is inherited.

Usually such a disease occurs in several generations in a row.

Pathogenesis and causes

The etiology of different types of BE is not the same. The simple form is caused by mutations of the KRT14 and KRT5 genes. According to geneticists, 75% of cases are due to structural disorders of these genes. As a result, the proteins of the basal layer of the epidermis (plakofillin-1, desmoplakin) become the object of attack. It can also be basement membrane proteins (alpha-6 / beta-4-integrin). Any mechanical effect provokes the release of enzymes. Last and destroy these proteins, causing cytolysis, a violation of the structure of the epidermis and the formation of bubbles.

The reason for the development of borderline EB are mutations in the LAMA3, LAMB3 and some others genes. Proteins such as laminin-332 and type-17 collagen are targeted. These proteins support the normal structure of the lower layers of the epidermis. Accordingly, their damage leads to the characteristic manifestations of border bullosa epidermolysis.

The dystrophic type of pathology is associated with mutations in the COL7A1 gene. The target protein is collagen of the 7th type. It controls the stability of the structure of other connective tissue fibers of the skin. The reduced content of this protein in the tissues leads to the easy development of rashes, blisters and erosions. Often there are violations of the work of other bodies.

Classification

According to the classification of EB, in dermatology there are 4 types of diseases:

  • plain,
  • borderline
  • dystrophic,
  • mixed (Kindler syndrome).

Simple BE is divided into 12 subtypes. Of these, the most common are Dowling-Meara, Kebner, Weber-Cockayn syndromes. Inherited recessive and autosomal dominant. It occurs in 1 out of 100,000 cases.

Borderline EB is divided into 2 subtypes. One of them has 6 more independent clinical forms. The heaviest is the Herlitz subtype. The formation of bubbles occurs at the level of the bright plate. The incidence of borderline bullosin epidermolysis is approximately 1: 500,000.

Dystrophic EB has 2 subtypes. Each of them is divided according to the mechanism of inheritance of pathology (recessive and dominant). Moreover, the dominant variant is more common. The recessive form has several clinical forms. Subtype Allopo - Siemens is the most severe.

Kindler syndrome is one of the least studied and rare forms of BE. Bubbles form in all layers of the skin - in the dermis, epidermis, light plate.

The main feature of the EB form is its early start - immediately after birth. In areas of the skin that are exposed to even slight friction, pressure or other mechanical stress, bubbles form. They are filled with serous contents. Size varies from pinhead to walnut. The dermis around the rashes does not inflame. The main sites of localization are elbows and knees, hands, feet and shins.

For most infants suffering from a simple form of EB, the first traumatic factor is the birth process. Bubbles open artificially or naturally, leaving a temporary pigmentation. Surface defects (dystrophy, scarring of tissues) are not observed after this. Mucous membranes in this form of the disease are rarely affected, in about 2% of cases. The nail plate is not destroyed. In a quarter of patients, excessive sweating of the palms and feet is possible.

General well-being is not broken. The physical, mental and mental development of the child meets age standards. By 8–12 months of life, some deterioration is noted. At this time, the baby learns to crawl and walk, which increases the degree of impact on the epidermis. In summer, signs of the disease are more pronounced than in winter. By adolescence, they weaken or disappear completely.

The localized form of BE, or Weber-Cockayne syndrome, is manifested in the first or second year of life. In the summer form of the rash are located only on the hands and feet. Bubbles are filled with blood-serous fluid. The condition worsens when wearing warm shoes or after taking hot baths.

The borderline form of the disease, especially the lethal subtype of Herlitz, is more severe. There is excessive brittleness of the skin, the appearance of a variety of erosion and bubbles. Symmetric granulations are formed on the back and face. The mucous membranes of the mouth are involved in the pathological process. Hypoplasia of tooth enamel and caries caused by it are possible. With severe disease increases the risk of death in the first years of life. Adult survivors develop contracture of the joints, loss of nails, kidney damage. The atrophic form of borderline BE has a more mild course. On the skin there are extensive rashes. After their resolution appear atrophic sites, cicatricial alopecia and nail dystrophy.

Symptoms of dystrophic BE depend on its form. The hyperplastic form appears from the moment of birth or after 1-2 days. Rash observed after any mechanical effect on the skin. After opening the bubbles remain scarring. In addition to the skin, mucous membranes are affected. Nails, hair and teeth retain their appearance. The mental and physical development of the child does not deteriorate. Nikolsky's syndrome is negative. This means that there is no tendency to separate the layers of the dermis. By adolescence, the manifestations of the disease subside.

Symptoms of polydisplatical form are marked from the moment of birth. Bubbles arise on the skin and mucous membranes, both in connection with the mechanical action and spontaneously. They contain a bloody liquid. After opening, the ulcers form, which gradually tighten. A rash can trap large areas of skin. Symptom Nikolsky positive. Often the patient is worried about severe itching. Nails quickly thin and completely disappear. After healing of the ulcers, scar tissue forms, which limits the mobility of the joints. Necrotizing tissues and spontaneous rejection of parts of the body (especially the phalanges of the fingers) are possible. Patients are often diagnosed with abnormalities of the teeth, underdevelopment of organs or tissues, and hair.

Subtype Allopo - Siemens is accompanied by the formation of deep erosion. Perhaps the defeat of the mucous membranes, contractures of the joints. Bubbles are located in the papillary dermis. This explains the prolonged healing of erosions and the appearance of scars.

For any type of EB, there is a risk of developing shock, secondary infection, sepsis, and dehydration. The greater the area of ​​the body occupied by the lesions and the more destructive their character, the higher the likelihood of complications.

Complications

Complications of epidermolysis bullosa can be shock, sepsis and dehydration. The state of shock develops with extensive skin lesions. Sepsis and dehydration occur when a secondary infection is attached. The more bubbles, erosion and ulcers, the greater the likelihood of complications. Treatment includes measures to eliminate the factors that can lead to these conditions.

Lifespan

How much live with epidermolysis bullosa? Life expectancy depends on how much the gene structure is changed and how deeply the damage to the tissues and the body has occurred. Severe forms can be accompanied by extensive tissue damage, the addition of infection, and damage to internal organs. Often in this case, the patient dies in infancy.

How much the patient will live depends on the care of him. With maximum effort, you can alleviate suffering and improve the patient’s quality of life. Basically, the life expectancy with this diagnosis is low.

Several cases have been described when the patients were completely cured. It became known that certain body systems can restore the genetic structure due to new mutations (reverse mosaicism). Such self-healing is extremely rare.

Prevention

Prevention is reduced to prenatal diagnosis in the presence of cases of epidermolysis bullosa in the family. If necessary, fetal biopsy is performed under ultrasound control in the second trimester of pregnancy.

Despite the fact that epidermolysis bullosa is an incurable pathology, the severity of which depends on the type of genetic disorders, its course can be affected. With timely diagnosis, proper treatment and proper patient care, the outcome can be favorable. In other cases, treatment will help alleviate the condition of the patient.

Symptoms of simple BE

The disease manifests itself since birth or somewhat later in areas that have been subjected to any mechanical irritant effects (friction, other damage). Characterized by the appearance of bubbles with serous contents, the size of a pea or walnut. Surrounding areas remain clean.

The main places of localization of inflammatory changes in simple epidermolysis bullosa:

  • knee and elbow joints,
  • ankles,
  • Hands,
  • scalp.

A few days after the appearance of bubbles burst. Crusted erosion occurs. They quickly epithelialize without scarring on the skin or atrophy.

Important. The lesions accompany the patient throughout his life, and since with age they are located, as a rule, on the feet and hands, their appearance and intensity directly depend on the selection of shoes or clothing.

The disease is not contagious, but it is incurable

Kindler's syndrome, or mixed BE

The disease is poorly understood and rare. Its specificity is the possibility of damage to all layers of the skin:

Over time, the development of photosensitivity, atrophy. There is a characteristic pigmentation of the skin, called poikiloderma. Quite often, nails are affected, atrophic scars appear. Gastrointestinal tract, urogenital system may suffer from complications.

Bubbles appear less and less with time, but sensitivity to the light and the sun remains. In this regard, the skin becomes discolored, wrinkled. On it appear small superficial blood vessels. Often noted:

  • palm-plantar keratoderma,
  • nail dystrophy,
  • pseudosindacty development.

Squamous cell carcinoma is also observed.

After wound healing, scars appear in their place, restricting freedom of movement.

What is this disease?

Bullosa epidermolysis is a group of genetically and clinically heterogeneous diseases characterized by the formation of blistering and erosive damage on the skin and mucous membranes as a result of the slightest injury (otherwise called “butterfly syndrome”). Various forms of epidermolysis bullosa may be accompanied by a variety of extracutaneous complications, in particular, the formation of blisters and erosions on the cornea and mucous membranes, enamel hypoplasia, stenosis and strictures of the respiratory, digestive and urinary systems, muscular dystrophy and malignant tumors.

The primary task of dermatologists and neonatologists is to make an accurate diagnosis and the appointment of appropriate skin care. But no less important is the treatment of out-of-skin complications to ensure a high quality of life for children. Manifestations of epidermolysis bullosa are diverse, therefore, for optimal care, a specialized multidisciplinary center is needed, in which doctors of all specialties who are familiar with this disease work.

What are the causes of the disease?

The cause of epidermolysis bullosa is a genetic predisposition. Everything is laid at the gene level, as mutation occurs in the genes encoding the structural proteins of keratinocytes and the basement membrane of the skin and mucous membranes. A common property of these proteins is their participation in creating strong bonds between the epithelium and the basement membrane or the extracellular matrix. To date, mutations have been identified in more than ten genes.

The symptoms of this disease are very extensive. Ее можно разделить на кожные и внекожные проявления и осложнения.

Кожные проявления и осложнения:

  • поражение кожи,
  • невусы,
  • epidermolysis bullosa and malignant skin tumors.

Extra skin manifestations and complications affect:

  • eyes,
  • ENT organs,
  • oral cavity,
  • GI,
  • musculoskeletal system
  • other organs.

A distinctive indicator of epidermolysis bullosa is the vulnerability of the skin, its sensitivity to external mechanical effects. This is directly related to the occurrence of erosion. In most forms of BE, erosion is preceded by tense bubbles, most of which are filled with a clear, colorless liquid. Sometimes the blisters have hemorrhagic contents.

Other primary elements that are observed in congenital epidermolysis bullosa include:

  • miliums,
  • they are dystrophy or lack of nail plates,
  • alopecia,
  • growth of granulation tissue
  • skin aplasia,
  • palm-plantar keratoderma,
  • spotted pigmentation
  • bullosa epidermolysis nevi.

Milia have the appearance of solid white papules. They can form in healthy areas of the skin, at the site of blisters and erosions, as well as in the scar tissue. The nails may thicken and turn yellow; longitudinal grooves are formed on the nail plates, as in the photo.

Growth of granulation tissue in the form of wet red loose plaques prone to bleeding, almost pathognomonic for the epidermolysis border bullosa Herlitz subtype. Most often they are located on the face, symmetrically around the natural openings of the body, sometimes leading to complete overgrowth of the nostrils.

Another typical localization is the base of the neck, axillae, proximal nail ridges and lumbosacral region. Occasionally, granulation tissue grows on the walls of the pharynx. Such single formations are squamous cell carcinoma and therefore require careful examination and, if indicated, a skin biopsy, especially in patients with recessive dystrophic EB.

Alopecia with damage to the scalp, focal or diffuse, is observed with more generalized subtypes of epidermolysis bullosa. In some patients, alopecia is accompanied by intense scarring.

Secondary skin lesions in EB are represented by atrophy, scars, pigmentation disorders, and adhesions. Malignant tumors are the most severe complication that occurs in adult patients with epidermolysis bullosa.

Treatment for epidermolysis bullosa

For patients with BE, the protection of vulnerable skin is of paramount importance: delicacy and a minimum of touch are required. Cool air, avoidance of overheating, and lubrication of the skin to reduce friction can reduce the formation of bubbles. The use of a water, airy or foam-filled mattress, as well as a soft fleece cover or a percale sheet, will help reduce friction. For chairs, car seats and other hard surfaces, sheepskin is ideal.

Infants and children with severe generalized EB may develop life-threatening sepsis. The risk of sepsis is enhanced by impaired cellular immunity in children with severe forms of BE. Long-term installation of catheters may predispose to candidal sepsis.

A small child with EB can not be taken by the armpits - it is lifted, taking under the neck and buttocks and carried on a soft, hypoallergenic material. Clothing should also be made of soft, hypoallergenic material, it is easy to put on and be simple in cut. You can use socks and mittens to prevent the baby from rubbing the skin on his hands and feet and not combing his face. If the child has a severe form of EB, it is inappropriate to use diapers, instead of them, it is better to place a diaper under the buttocks and leave the crotch open. When diapers are used, the skin should remain dry and clean.

Many wounds of BE patients are covered with several layers of bandages or non-adhesive sterile dressings. Every day, dry outer layers of dressings are gently removed with scissors, and adhering layers - by soaking: in a bath or by applying wet compresses. Adult patients usually change their dressings themselves, children help parents or health workers.

To prevent tense bubbles from expanding and thereby increasing the surface of future erosion, they are pierced, following the rules of asepsis. To facilitate wound healing, it is necessary to cleanse necrotic masses and foreign materials. With simple EB, there are particular problems, since bubbles can form around the edges of conventional dressings or below them. Dusting the punctured bubbles with cornstarch helps them dry out, reduces friction and prevents sticking, thereby eliminating the need for dressing.

Growing and tense blisters can cause significant pain and discomfort. Topical application of narcotic analgesics, which affect peripheral opioid receptors, is allowed: 10 mg of morphine sulfate mixed with 15 g of IntraSite gel can be applied directly to open wounds daily when changing dressings.

A phased approach to general anesthesia is preferred. For mild pain, simple analgesics are used, such as paracetamol (acetaminophen), alone or in combination with any nonsteroidal anti-inflammatory agent (ibuprofen or diclofenac). For severe pain, narcotic analgesics (codeine phosphate or morphine sulfate) may be required.

Clinical picture

The leading clinical sign of a disease in any of its forms is the appearance of blisters in response to a minor mechanical injury. Simple epidermolysis subtypes are characterized by the formation of hemispherical, stressed and fluid-filled blisters, which form at the sites of friction / trauma. Border and dystrophic forms are accompanied by the formation of flaccid, with folds of a tire that sags under the weight of the liquid. Such blisters are easily opened and are formed not only in the areas of injury, but also in areas of tension (groin and axillary folds, in the neck). In any type of pathology, multiple blisters and erosion can form that capture a large area of ​​skin. Erosions are characterized by prolonged healing in any type of disease.

Simple form of the disease

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

Localized simple BE or Weber-Cockayn syndrome is characterized by the formation of blisters on the palms and soles of the feet, and the exacerbation of the disease occurs in the summer, when the risk of skin trauma increases and sweating increases. The older the child becomes, the less bubbles are formed.

Generalized simple BE or Dowling-Meara syndrome is characterized by a severe course and is characterized by the formation of bubbles in newborns immediately after birth. The progression of the disease is noted for up to a year, then the process stabilizes and, over time, there is an improvement up to the cessation of the occurrence of bubbles or their rare formation. Often these blisters are filled with pus and covered with layered yellowish crusts. After blisters disappear in places of their localization, persistent pigmentation is noted.

Additional features of simple generalized EB include:

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

Dystrophic form of the disease

Dystrophic form can be inherited recessively or dominantly. This is the heaviest subgroup of EB, since the deep layer of the dermis is damaged, the healing of bubbles occurs with the formation of coarse scars. Almost always in the dystrophic form of the disease mucous membranes are affected. A characteristic and most severe subtype of the dystrophic form is Allopo-Siemens syndrome. Manifestations of the disease are already visible from birth, and many newborns are born with a complete lack of epidermis on the limbs. Especially hard pathology occurs in the first years. There is a slow epithelialization of erosion, up to several months. It is characteristic that the older the child, the worse the healing process. The formation of coarse scars leads to the formation of contractures and fusion of the fingers, which further blocks the growth and development of the hands / feet. Similar cicatricial changes lead to difficulties of self-service and movement. The defeat of the mucous membranes with the formation of erosion in the rub ends with scarring and the formation of a microstomy (narrowing of the oral opening), a short frenulum of the tongue, a speech defect. Scarring of erosions in the pharynx / esophagus leads to the formation of obstruction and narrowing of the esophagus, difficulties in swallowing. Healing of erosion in the rectum disrupts defecation. Also, patients are prone to caries and they often have anomalies in the location of the teeth, up to a complete loss.

Border form of the disease

The most severe subtype is Gerlitz syndrome, which is characterized by the formation and rapid spread of flaccid and multiple bubbles, which almost immediately burst. Excessive proliferation of granulation tissue leads to the formation of granulations around the mouth and nails, which occur in the first days of the infant's life. Also, the child is accompanied by aplasia of the skin (absence of a part of the skin on the hairy scalp), defect of nails and hoarseness, problems with teeth. Healing of erosion is also accompanied by the formation of coarse scars. Other symptoms (non-skin): stunting and mental development of the child, impaired breathing, anemia, problems with the lungs (pneumonia) and digestive tract (gastroenteritis) and the development of sepsis. Mortality in Gerlitz 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.

Differential diagnostics

Bullosa epidermolysis in newborns differentiate with diseases such as:

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

At an older age, the disease is differentiated with the following pathologies:

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

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

  • blistering and ulceration
  • warning of new rashes,
  • eliminating or reducing the intensity of non-skin symptoms,
  • improving the quality of life of the patient.

Specific therapy for this disease is not developed. Symptomatic treatment methods are used. The patient should be inspected twice a day for new lesions. Bubble formations are first treated with an antiseptic, then opened using a sterile scissors, scalpel or needle. Bubble pierced in two places parallel to the skin. Tire bubble should not be removed, you only need to release its contents and apply an aseptic bandage with an antiseptic (nitrofural, methylthionium chloride and others). For dressing the lesion using primary dressings made of collagen porous materials and secondary fixative. Remove the bandages by treating them with a skin cleaner (spray).

If the patient is worried about itching, prescribe antihistamines and glucocorticoids. With significant pain - non-narcotic analgesics (ibuprofen, ketorol). If the child swallows with difficulty, the medication is orally discharged in liquid form (suspension) or administered parenterally. In the case of accession of a secondary infection, antibiotics are prescribed. Treatment of intact skin with vitamin A ointments and cosmetic moisturizers twice a day is also indicated. It enhances the protective properties of the skin. With the development of complications, adjacent specialists are involved in the treatment.

Patient care

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

Special requirements for clothing and footwear. Clothes of a sick child should be free, do not rub and do not tighten the skin. Preference should be given to clothing made from natural materials. At home, it is advisable to wear a child in soft (bikes, flannels) pajamas and socks on their feet (sneakers are not desirable). Clothing must be multi-layered, so it keeps warm and does not allow the accumulation of sweat. Wear underwear and the first layer of clothing. Thongs and belts, tight elastic bands on swimming trunks and pajamas are not allowed.

Shoes should be made of genuine, but soft leather, with a minimum of seams and the lack of decorative details. It is advisable to buy shoes with Velcro, avoiding shoes with zippers. Footwear for a child should be loose and easy to wear, even with bandages on the legs.

Question answer

No, there are no special contraindications. Do not do vaccinations only with poor health of the patient (a complication of skin rashes). Also Mantoux tests are not performed.

Unfortunately, the disease is incurable, as laid down at the gene level. But in medicine, the rarest cases of reverse mosaicism are described - the restoration of the body’s work, in particular, of skin proteins and the emergence of new changes in the structure of genes. But the parents of the sick child can be comforted by the fact that the older the sick person becomes, the easier the disease progresses.

Yes, in Russia there is still actively prenatal diagnosis of genetic diseases, including epidermolysis bullosa. For this purpose, horioncentesis is performed for 10–14 weeks and the presence of a genetic defect in the fetus is determined. If it is, pregnancy is recommended to interrupt. Prenatal diagnosis is indicated for couples who already have a sick baby, or for a confirmed disease of one of the parents.

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

"Butterfly Syndrome"

Children with epidermolysis bullosa are called butterfly children. The syndrome itself is so named because the skin of such babies is fragile, like a butterfly. This causes painful suffering for the patient throughout his life. "Butterfly Syndrome" - a rare disease. However, such patients do exist, and it is not possible to cure them. This is explained by the fact that the disease is laid at the genetic level.

Such children need special care:

  • completely friendly environment
  • soft clothes and shoes
  • special dressings,
  • special diet.

The future of the baby butterfly is determined by the severity of the disease and the quality of its care. It is very difficult to answer the question of how many people live with a bullous epidermolysis, since in severe forms life is not long. The deeper the skin is affected, the more severe the disease is. Although there are examples when people with a diagnosis of "bullosa epidermolysis" get married and even have children.

Important! The most difficult period in patients is up to 3 years old. In a child who is properly looked after, the skin gradually coarsens, and after 3 years it becomes easier for him to live.

"Butterfly Syndrome" is manifested by the fragility of the skin, which after injury causes immense suffering to a child

Epidermolysis bullosa is a hereditary disease, and its treatment is due precisely to this fact. A study of the disease revealed that it is based on a violation in the metabolism of a certain protein, which regulates the susceptibility of organs, tissues and skin of the body to the effects of temperatures. Disorders are observed in all cells.

It was concluded that the most effective of the methods of drug treatment is anabolic steroid therapy.. Commonly used:

  • vitamin E,
  • adrenal hormones,
  • amino acids
  • biologically active elements
  • other drugs that can stimulate the metabolic process.

To the number of tonic drug substances are added drugs with the content of:

  • calcium,
  • sulfur,
  • zinc
  • gland,
  • aloe,
  • suspended human placenta.

Treatment should be carried out with the help of dressings and lubrication of the affected areas with prescribed drugs several times a day.

Blisters on the skin should be systematically opened, and the traces should be treated with various disinfecting solutions and antibiotic ointments. Wounds are washed with broths and tinctures of medicinal herbs.

Attention! The prognosis of epidermolysis bullosa is very different. It depends on the severity of the disease. With a complicated course of death is possible. The vast majority of sick children are doomed to lifelong disability.

Treatment of folk remedies

Clinical therapy is useful to supplement the means of traditional medicine. You can fight the disease with the help of baths:

  • With decoctions of oak bark, train, chamomile flowers. Прежде чем принимать такую ванну, необходимо убедиться в отсутствии аллергии на эти компоненты.
  • With a weak solution of potassium permanganate or with the addition of olive oil. This bath has a calming effect, is a natural antiseptic.

Every day in the evenings you should swim with the use of medicinal herbs: chamomile, oak bark, etc.

Important! In no case should you choose to replace basic medicinal drugs with herbs at your discretion, since the course of the disease can only get worse.

It should not be forgotten that folk remedies cannot radically cure this disease. They can only be considered as an aid.

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