Genetic disease, which manifests itself in the absence of skin protection from mechanical contact and rubbing - the skin reacts with rashes - is called bullous epidermolysis. The problem is hereditary and does not depend on the infectious diseases suffered during the bearing of the child.
Features of pathology
The disease manifests itself when there is a mutation of genes in the amount of more than ten. Any mechanical effect, in the presence of a disease, leads to damage to the skin. Usually, bubbles appear.
Children are diagnosed with pathology at an early age. How the disease manifests itself depends on its type by classification and still subspecies. In the Kind of Kindler syndrome, newborns are born with symptoms of bullous epidermolysis with already formed blisters.
The disease occurs in the same proportion in the female and male. In childhood, attention is drawn to the possible presence of such a feature: congenital inferiority or lack of elastic fibers, which will indicate the disease.
This video contains useful information about the characteristics of bullous epidermolysis:
Classification of
Classification and division of bullous epidermolysis( abbreviated BE) for certain species was possible with the use of electron microscopy. He helped to see the different levels of skin damage, and experts took this information as the basis for classification.
There are three types of disease and the fourth species, which are considered separately:
- simple form of BE - this is the case when the localization of blisters is on the surface of the epidermis;
- boundary view of BE - bubbles are located at a level that is called a light plate;
- is a dystrophic species of the AS of - this name gets the disease when the blisters are located in the papillary layer, in the upper part.
- variant of BE - Kindler syndrome - there are no regularities in localization of blisters, their formation is observed at different levels.
Each type of disease specialists are divided into subspecies. They differ according to the sign that the genes mutated and the type of inheritance.
Causes of
Bullous epidermolysis is inherited. One of the parents may be that both parents have a mutation of certain genes. At the same time they can be quite healthy people.
A conceived child, with certain combinations of the parents' genetics, inherits the disease. The type of problem depends on the path of inheritance: recessive or dominant. It is about the form of the interaction of a pair of genes. These nuances, which are well owned by genetics, will affect the type and subtype of the disease.
Symptoms of
The main sign of the disease is the body's tendency to erosion after even the slightest impact on the skin and mucous surfaces. Characteristic of the appearance of bubbles. Rashes can occur and for no apparent reason.
Bubbles have such features:
- cavities are filled with transparent contents,
- sometimes bubbles have a filling with hemorrhagic fluid,
- bubbles look strained.
The localization of the blisters may be different:
- of the foot and hands,
- oral cavity,
- nail rollers,
- axillary cavity,
- the entire surface of the skin.
Depending on the type and the subtype of the lesion, the disease can occur, the blisters can heal:
- with the appearance of scars,
- leaving no residue.
Diagnostics
Three methods are used to determine the type of disease:
- The method of indirect immunofluorescence allows to find out information about structural proteins: their absence or presence, their distribution in blisters, as well as other information that enables specialists to understand the features of the pathology, correlate the disease with a certain type and subtype.
- A reliable method is to study small skin samples taken from the site of the lesion by the biopsy using electronic transmission microscopy. In this way, it is determined on which skin layer pathological processes occur, that is, the type of disease becomes understandable.
- Genetic analysis of reveals gene mutations and all the details of this issue. Experts on all the data obtained can say about the type of inheritance. This type of diagnosis is possible in the prenatal period by direct sequencing.
Congenital bullous epidermolysis in children( photo)
Treatment of bullous epidermolysis
The treatment of patients with BE is complex. Pathology refers to a systemic disease, so treatment is coordinated by the team of doctors.
Therapeutic method
The symptomatic treatment is to maintain the skin condition with the aim of:
- not to allow the bubble area to increase,
- to create conditions in which there will not be a disruption of the integrity of the bladder, because this situation leads to erosion of the skin surface;
- if there are wounds, then they are provided with qualified care, often using special medical dressings that do not stick to the wound. In the presence of wounds, the main task is to heal and create conditions for epithelialization.
This video will tell you about the person with the considered pathology:
Medication-based
Drugs of this type are used:
- analgesics,
- vitamins,
- antibiotics,
- preparations that work at the gene level and regulate the processes occurring.
Other methods of
Modern methods of treatment:
- Use of stem cells to affect the health of newly emerging cells.
- Protein therapy - replenishment of the missing protein in the body to restore collagen fibers.
- Combined therapy with when skin grafts are used.
- Cellular therapy - the donor cells are injected with healthy genes that encode the protein.
- Gene therapy - the patient is injected with a gene that is damaged in order to encode the protein.
Prevention of the disease
Measures to prevent exacerbations of the disease:
- For the patient, clothes, footwear, household items are selected, which exclude trauma on contact.
- The patient is recommended to follow a special diet containing a sufficient amount of easily digestible protein.
- Supervision of the doctor and preventive courses of treatment.
Complications of
In the case of wounds, complications are possible due to infection.
Some forms of the disease lead to the defeat of internal organs. There are such violations:
- narrowing of the esophagus,
- constipation,
- diarrhea,
- obstruction of the esophagus,
- of rectum disease,
- , swallowing disorders,
- stomach disease,
- corneal damage,
- muscle dystrophy,
- eversion of the eyelids,
- dental disease,
- cardiomyopathy,
- Finger joint,
- nail damage.
Forecast
Genetic disease can not be completely cured. It is necessary to be supervised by doctors to prevent a worsening of the situation. Of great importance is the fact what kind of disease the patient has.
Severe forms of the disease can lead to such results:
- disability at an early age,
- death of newborns for several months or even days.
This video contains the advice of pediatricians regarding bullous epidermolysis: