Human skin is an anatomical structure that performs the function of protecting the human body from infections, overheating and hypothermia, regulating water and salt metabolism. But with the development of skin disease, all organs as a whole suffer.
Epidemiology
In the territory of the Russian Federation, the incidence rate of bullous epidermolysis is equal to 1:50 thousand– 1: 300 thousand people with various shades of the disease. Gender does not matter. Among patients, registered patients of childhood and adolescence predominate. Mutations affect more than 10 genes. Code for ICD-10 Q81.
Congenital epidermolysis bullosa has about 30 forms of the disease. Life expectancy for bullous epidermolysis - butterfly disease - is about three years.
Description
Bullous epidermolysis is a hereditary type of disease characterized by the formation of erosion and blisters on the skin and mucous membranes. The peculiarity of the pathology is that it affects people with vulnerable and sensitive skin: even a weak mechanical effect on it causes severe irritation. The pathology is called butterfly disease due to the increased vulnerability of the skin.
This rare disease appears immediately after birth; it cannot be cured or prevented. Incorrect treatment and care create the conditions for the penetration of infection with subsequent tissue necrosis.
After overcoming a critical milestone, the skin becomes denser, but still does not reach the normal level of strength.
Causes
The so-called "butterfly disease" is hereditary, transmitted by a dominant or recessive trait. The reasons are gene mutations, as a result of which proteins are destroyed by enzymes.
Damage occurs on the principle of a shift between the upper and lower layers of the skin. Normally, the layers of the skin are combined using 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, peels and separates from the inner.
Type of disease and genes:
- conventional BE mutations of the KRT5 and KRT14 genes;
- dystrophic BE - affects the COL7A1 gene;
- border BE - LAMB3, LAMA3.
If bullous epidermolysis manifests itself in the presence of autoantibodies to the components of the basement membrane of the skin of humans 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 is covered with blisters with serous contents, and after opening them there are no traces 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 severity and localization (simple, borderline, dystrophic, mixed).
1. A simple form of bullous epidermolysis (common subtypes).
- Localized: damage to the hands and feet, summer exacerbation, common in childhood, the manifestations fade with age.
- Generalized: the most severe, it is characterized by the presence of vesicles throughout the body, resembling a rash with herpes. In the list of manifestations - thickening of the skin on the palms and feet, severe pigmentation of the skin, degeneration of nails, hard acne, damage to the mucous membranes. Complications can lead to laryngeal stenosis, stunted growth, and death.
- Spotted: similar to simple BE, opening of vesicles, appearance of age spots are characteristic. Localization - neck, armpits, groin.
- Non-petiform: localization is different, single blisters.
2. Borderline.
- Hertlitz type: the most severe, characterized by many blisters and scars, loss of nail plates, underdevelopment of tooth enamel, damage to the oral mucosa, overgrowth of granulation tissue in the mouth, nose, on the back, in the armpits, on the nail rollers. Complications: anemia, narrowing of the digestive tract, growth retardation, damage to the respiratory system, urinary tract, kidneys, eyes, hands. Due to loss and low weight gain, sepsis, pneumonia, bullous epidermolysis of newborns can lead to death.
- Non-Hertlitz type: blistering, crusting, erosion, skin atrophy, cicatricial alopecia, loss of nails, enamel hypoplasia. Death is possible due to sepsis and stunted growth.
3. Dystrophic.
Damage to the papillary layer of the skin with the formation of scars and erosion, possibly limiting movements, damage to the mucous membranes.
According to the principle of inheritance, a disease of this form is:
- dominant - with skin lesions by blisters, atrophic scars (mainly hands and feet), dystrophy of the nail plates. Complications: bubbles of the gastrointestinal mucosa;
- recessive - a difficult to treat subtype of Allopo-Siemens (extensive blistering, erosion, nail dystrophy, finger joint); the second is a non-Allopo-Siemens subtype that can be treated (blisters are localized on the arms, trunk, and bends).
With recessive bullous epidermolysis, hand changes undergo changes in the gastrointestinal tract, genitourinary system, anemia, osteoporosis, and developmental problems are not ruled out. Patients have a high risk of worsening.
4. Mixed, Kindler's syndrome.
In the presence of this form, a child with epidermolysis bullous 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 transparency and visibility of blood vessels. Other symptoms: gum disease, dystrophy of the nails, narrowing of the lumen of the gastrointestinal tract, pseudosyndactyly of the fingers, progression of skin cancer.
Acquired Bullous Epidermolysis
The disease manifests itself in adults when the feet and palms suffer: blisters protrude on them, resulting in scarring.
Types of acquired BE:
- classic: blisters appear on clean skin; more often - in the bends of the elbows, knees, on the arch of the foot, after opening which there are redness, areas of cicatricial atrophy. Mucous membranes of the mouth, nose, esophagus, conjunctiva, anus, vagina are affected;
- inflammatory: vesicles in open areas, prone to fusion, an urticarial, papular rash is not excluded .
Diagnostics
The diagnosis is determined at the center of epidermolysis bullosa on the basis of anamnesis, complaints, examination of the patient, laboratory tests. A histological analysis of the affected areas of the skin is carried out, due to which the presence of a subepidermal cavity is confirmed. But these data are not enough to determine the exact type of bullous epidermolysis.
Indirect immunofluorescence (NRIF), transmission electron microscopy are performed and the biopsy of the skin is used to establish the dynamics of the synthesis of skin proteins. NRIF determines the degree of skin damage, the formation of a bladder.
In diagnostics, it is important to determine the degree of protein deficiency and blistering.
By electron microscopy, the subtype of the disease is clarified, ultrastructural changes are determined, and the state of cell formations is evaluated. Related specialists take part in the diagnosis: therapist, cardiologist, surgeon, gastroenterologist, hematologist, dentist, oncologist, otolaryngologist.
Patients: the story of Lisa Kunigel
From the first days, little Lisa had the opportunity to experience pain from skin lesions associated with any movements and care procedures. This appearing blood around the mouth during feeding, a wounded navel, the area of Velcro diapers, areas of contact between the toes and other surfaces of her skin remained vulnerable to bewilderment of doctors.
The diagnosis was not immediately made, antibiotics caused dysbiosis, the treatment was complicated, while the child also needed specific nutrition. And taking care of the baby was also not easy, given the constant injuries due to the first movements, cutting teeth, rubbing eyes when the girl wanted to sleep.
In accordance with the Rusfond program, Lise Kunigel transferred funds that were only partially enough to cover the costs of 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 care is not possible, including dental treatment.
Thanks to Rusfond, Lisa Kunigel (Latvia) regularly visits the German clinic of Dr. Freiburg, where she is given the necessary therapy. Currently, the girl is not able to eat. Lisa Kunigel experiences aggravation: the mucous membranes of the esophagus are affected, there is anemia, exhaustion, the temperature is constantly elevated, and wounds that do not heal for many months.
In the Kunigel family, in addition to Lisa, there are three more children, a disabled mother and father - a military pensioner. Means, including a pension for a sick child and the income of the head of the family, are not enough for vital necessities. According to the head of the department of the Center for Bullous Epidermolysis of Freiburg, if the girl loses the examination and therapy, her condition will rapidly deteriorate, muscle atrophy threatens, the inability to even drink water. Properly selected treatment will prolong the life of Lisa Kunigel and help her get rid of acute pain.
Treatment
There is currently no universal therapy for healing. Adults are offered symptomatic treatment with steroid hormones, cytostatics, immunoglobulins.
The main treatment involves the prevention of skin trauma, the prevention of an increase in bladder volume, the timely diagnosis, and the elimination of complications.
Symptomatic treatment, procedures:
- anabolic drugs;
- general antibiotics;
- blood transfusion;
- vitamins.
Skin Protection Therapy:
- non-adhesive dressings, not tight to the skin, removed without effort;
- collagenic, hydrocolloid coatings, tight-fitting and creating conditions for effective healing;
- moisturizing agents to improve keratinization, increasing damage resistance;
- bioplastic materials equipped with regenerative properties, containing substances resembling skin in structure, providing drainage and promoting healing;
- keratinocyte transplant, producing active substances for skin renewal.
Promising methods:
- protein treatment - injections of a protein with a normal structure and functions that replace the affected;
- gene - replacement of defective genes by transplantation or using pharmaceuticals to regulate processes in DNA;
- cell - the introduction of cells that replace the functions of damaged ones.
Patient care
For a sick child, a protective regime is assumed: physical activities that increase sweating, vigorous movement, creating traumatic situations, are excluded.
Patients require a specific diet: grated food at room temperature, a semi-liquid consistency, not containing seasoning. Products should be enriched with proteins, fats and carbohydrates, minerals, vitamins, which is necessary primarily as building materials for the healing of 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 clothes and shoes: products should not limit movements, do not rub, do not squeeze the skin. Priority is given to natural tissues. Clothing from several layers ensures the presence of air and maintaining a stable temperature, sweating is excluded. Underwear is worn with seams outward.
Tight buckles and belts are not allowed. Shoes are recommended without a lot of decorations and minor details, preferably with Velcro rather than zippers, they should be easy to put on, possibly with bandages on their feet.
Forecast
The outcome of the disease depends on the depth of the gene mutation and the type of epidermolysis bullous. A newborn baby butterfly tends to have a short lifespan. The risk increases with improper care and reinfection.
The answer to the question about the prospects of the condition of children with 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 skin damage, the general condition of the patient. Unfortunately, it is difficult for children to reach school age, it requires a lot of effort and courage. Nevertheless, mild forms of epidermolysis bullosa eventually transform into a stable remission, and blisters appear only as a result of trauma to the skin.
Simple forms of the disease leave more chances for life expectancy with bullous epidermolysis. Adults are prone to periods of exacerbation with remissions, the prognosis is better than for children, the outcome depends on the extent of the disease and the complication of the infection.
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