Bullous epidermolysis: what it is, symptoms and treatment

Bullous epidermolysis is a genetic disease of the skin that causes the formation of blisters on the skin and mucous membranes, after any friction or minor trauma that can be caused by irritation of the clothing label on the skin or, simply, by removing a band-aid , for example . example. This condition happens because of genetic changes transmitted from parents to their children, which lead to changes in the layers and substances present in the skin, such as keratin.

The signs and symptoms of this disease are linked to the appearance of painful blisters on the skin and on any part of the body, and may even appear on the mouth, palms and soles of the feet. These symptoms vary according to the type and severity of bullous epidermolysis, but they usually get worse over time.

Treatment for bullous epidermolysis consists mainly of supportive care, such as maintaining adequate nutrition and dressing the skin blisters. In addition, studies are being carried out to perform bone marrow transplantation for people with this condition.

Main symptoms

The main symptoms of bullous epidermolysis are:

• Blistering of the skin with minimal friction; Blistering inside the mouth and even in the eyes; Healing of the skin with rough appearance and white spots; Impairment of the nails; Hair reduction; Reduction of sweat or excess sweat.

Depending on the severity of the epidermolysis bullosa, scarring of the fingers and toes may also occur, leading to deformities. Despite being very characteristic symptoms of epidermolysis, other diseases can lead to the appearance of blisters on the skin, such as herpes simplex, epidermolytic ichthyosis, bullous impetigo and pigmentary incontinence. Know what bullous impetigo is and what the treatment is.

Cause of bullous epidermiolysis

Bullous epidermolysis is caused by genetic mutations transmitted from parents to children, which can be dominant, in which one of the parents has the disease gene, or recessive, in which the father and mother carry the disease gene but there is no manifestation of signs or symptoms of the disease.

Children who have close relatives with the disease or with a bullous epidermolysis gene are more likely to be born with this type of condition, so if parents know they have the disease gene through genetic testing, genetic counseling is indicated. See what genetic counseling is and how it is done.

What are the types

Bullous epidermolysis can be divided into three types depending on the layer of skin that forms the blisters, such as:

• Simple bullous epidermolysis: blistering occurs in the upper layer of the skin, called the epidermis and is common to appear on the hands and feet. In this type it is possible to see the nails rough and thick and the blisters do not heal quickly;

• Dystrophic epidermolysis bullosa: blisters of this type arise due to defects in the production of type V | I collagen and occur in the most superficial layer of the skin, known as the dermis; Junctional epidermolysis bullosa: characterized by the formation of bubbles due to the detachment of the region between the most superficial and intermediate layer of the skin and in this case, the disease occurs by mutations in the genes linked to the dermis and epidermis, such as Laminin 332.

Kindler's syndrome is also a type of bullous epidermolysis, but it is very rare and involves all layers of the skin, leading to extreme fragility. Regardless of the type of this disease, it is important to highlight that bullous epidermolysis is not contagious, that is, it does not pass from one person to another through contact with skin lesions.

How the treatment is done

There is no specific treatment for epidermolysis bullosa, and it is very important to have regular consultations with the dermatologist to assess the condition of the skin and avoid complications, such as infections, for example.

The treatment for this disease consists of supportive measures, such as dressing the wounds and controlling the pain and, in some cases, hospitalization is necessary to make sterile dressings, free of microorganisms, so that medicines are administered directly into the vein, as antibiotics in case of infection, and to drain the blisters on the skin. However, some studies are being developed to carry out stem cell transplants in the treatment of dystrophic bullous epidermolysis.

Unlike blisters caused by burns, blisters caused by epidermolysis bullosa must be punctured with a specific needle, using sterile compresses, to prevent it from spreading and causing further damage to the skin. After draining, it is important to apply a product, such as antibacterial spray , to prevent infections.

When surgery is needed

Bullous dermatitis surgery is usually indicated for the case where the scars left by the blisters hamper body movement or cause deformities that decrease quality of life. In some cases, surgery can also be used to make skin extracts, especially on wounds that are taking a long time to heal.

What to do to prevent the appearance of bubbles

Since there is no cure, treatment is done only to relieve symptoms and reduce the chances of new blisters. The first step is to have some care at home, such as:

• Wear cotton clothing, avoiding synthetic fabrics; Remove labels from all clothes; Wear underwear turned upside down to avoid contact of the elastic with the skin; Wear light and wide enough shoes to wear seamless socks comfortably; Be very careful when use towels after bathing, gently pressing the skin with a soft towel; Apply Vaseline in abundance before removing dressings and do not force its removal; If the clothes eventually stick to the skin, leave the region soaked in water until the clothing loosens itself of the skin; cover the wounds with non-adhesive dressing and with loose gauze wrapped; sleep with socks and gloves to avoid injuries that may occur during sleep.

In addition, if there is an itchy skin, the doctor may prescribe the use of corticosteroids, such as prednisone or hydrocortisone, to relieve skin inflammation and reduce symptoms, avoiding scratching the skin, producing new lesions. It is also necessary to be careful when bathing, preventing the water from getting too hot.

The application of botox to the feet seems to be effective in preventing blisters in this region, and gastrostomy is indicated when it is not possible to eat properly without the appearance of blisters in the mouth or esophagus.

How to make the dressing

The dressing is part of the routine of those who have epidermolysis bullosa and these dressings should be done with care so that it promotes healing, reduces friction and prevents bleeding from the skin, for this it is important to use non-adherent products on the skin, that is, that have no glue that attaches too tightly.

To dress wounds that have a lot of secretion it is important to use dressings made of polyurethane foam, as they absorb these fluids and offer protection against microorganisms.

In cases where the wounds are already dry, it is recommended to use hydrogel dressings, as they help eliminate dead skin tissue and relieve pain, itching and discomfort in the area. Dressings must be fixed with tubular or elastic meshes, and it is not recommended to use adhesives on the skin.

What are the complications

Bullous epidermolysis can cause some complications such as infections, as the formation of bubbles leaves the skin more susceptible to being contaminated by bacteria and fungi, for example. In some more serious situations, these bacteria that enter the skin of the person with bullous epidermolysis can reach the bloodstream and spread to the rest of the body, causing sepsis.

People with epidermolysis bullosa may also suffer from nutritional deficiencies, which arise from blisters in the mouth or from anemia caused by bleeding from the lesions. Some dental problems, such as caries, can appear, as the lining of the mouth is very fragile in people with this disease. Also, some types of epidermolysis bullosa increase the risk of a person developing skin cancer.