Epidermolysis bullosa: causes, symptoms, treatment
Epidermolysis bullosa is not a single pathology, but a whole group of hereditary nosologies, manifested by a slight tendency to injure the skin. The main manifestation is the formation of bubbles with liquid content on the skin, and after their dissection, the formation of erosions that do not heal for a long time.
Causes and forms of epidermolysis bullosa
The causes of epidermolysis bullosa depend on the type.
Epidermolysis bullosa simplex develops due to mutations in the KRT5 and KRT14 genes. It is assumed that the balance between enzymes and inhibitors (compounds capable of inhibiting processes in tissues) is disturbed in the skin. As a result, enzymes are secreted that destroy skin proteins, against the background of which bubbles appear.
Boundary epidermolysis bullosa is provoked by mutations in the genes labeled LAMB3 and LAMA3. The enzyme system becomes unbalanced, that is, collagen type 17 and laminin-332 suffer, without which the normal structure of the skin is disturbed. In addition to the formation of bubbles and erosions, increased skin fragility is noted.
Dystrophic epidermolysis bullosa develops due to mutations in the COL7A1 gene. Because of this, type 7 collagen, which controls the condition of the connective tissue elements of the skin, suffers. The lack of this protein provokes the formation of rashes, erosions (ulcers) and blisters on the skin.
A feature of mixed epidermolysis bullosa is the formation of bubbles in all layers of the skin.
These are the main types of pathology, in general there are dozens of types of epidermolysis bullosa.
Symptoms
Symptoms of the pathology may differ, but the common feature of various forms of bullous epidermolysis is the formation of bubbles and ulcers during mechanical action on the skin.
With a localized form of simple epidermolysis bullosa, changes are observed only on one part of the body (hand, foot).
The borderline form of bullous epidermolysis is characterized by a more severe condition. For example, with the lethal Herlitz subtype, the following are diagnosed:
- increased skin fragility;
- formation of a large number of bubbles and erosions;
- formation of granulations on the face and back.
Often patients with epidermolysis bullosa of the lethal subtype die in the first years of life. Survivors have:
- contractures (stiffness) of joints;
- kidney damage;
- loss of nail plates.
The atrophic form of borderline bullous epidermolysis is characterized by large rashes with the formation of scars.
Dystrophic epidermolysis bullosa usually affects large areas of the body. Its dominant type (associated with dominant genes) is more benign - patients lose their nails, and they develop noticeable scars. The recessive variant is more severe: the bones are affected, and squamous cell cancer may develop at the site of the scars over the years.
Diagnostics
The diagnosis of epidermolysis bullosa in children and adults is made on the basis of skin examination, immunohistological studies and genetic analysis, hereditary anamnesis.
The main test consists in the fact that the doctor mechanically acts on the patient's skin and after some time evaluates the consequences of this irritation.
In immunofluorescent analysis, antibodies are used that have an affinity for skin proteins. With the help of this method, it is possible to estimate the amount of proteins, and therefore the enzymatic activity of tissues. A reduced level of protein confirms its low release or forced destruction.
The study of hereditary anamnesis helps to identify the patient's relatives with the same disease.
Complications
It is important to know the causes of epidermolysis bullosa, as well as possible complications. Epidermolysis bullosa, regardless of the type, is most often accompanied by the following complications:
- accession of secondary infection;
- infectious-toxic shock;
- sepsis;
- dehydration.
Epidermolysis bullosa: treatment
Specific treatment has not been developed. The goal of therapeutic procedures is to reduce the severity of skin disorders and prevent the formation of complications.
Prednisone is prescribed when severe forms of pathology develop.
Local treatment consists in dissection of blisters, their treatment with antiseptics. The bandage is applied very carefully - the pressure can provoke the development of new bubbles.
Stem cell treatments, protein and gene therapy are also being developed - but so far they have only been tested on animals. Now epidermolysis bullosa is an incurable pathology.
Prevention
The disease is congenital, so there is no specific prevention. To prevent the development of skin problems against the background of this pathology, you should treat the skin with care - avoid traumatization.
Read about the treatment of epidermolysis bullosa on our site Dobrobut.
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