Epidermolysis bullosa

Epidermolysis bullosa is a skin disease, sometimes called butterfly wings disease. Typical manifestations of the disease are blisters, very vulnerable skin, internal organs and body parts. The skin is susceptible to damage even by gentle contact, pressure or friction, the skin layer breaks and open wounds occur. The cause of high sensitivity is the lack of certain proteins in the skin.

In addition to the skin, mucous membranes, organs and body parts are also weakened. Many patients experience hair, teeth and nail loss. Oral cavity, respiratory system, urogenital, digestive system are also affected.

Some types of Epidermolysis bullosa are associated with shortening of muscles, muscular dystrophy, mutation of the fingers of the upper and lower limbs due to ingrowing fingers.

Many people with this skin disease have limited ability to move, so they are dependent on a wheelchair.

Rare disease with rare occurrence

Epidermolysis bullosa is a very rare skin disease. It occurs only in 1-5 people per 100,000 inhabitants with the same probability for men and women.

How does the disease develop and what are the causes?

The disease is not only inherited from parents asit can also occur in children of healthy parents by accidental mutation of genes.

Hereditary disease

The disease is hereditary if at least one parent has the defective gene.

Accidental disease

The disease also occurs accidentally without the parents having the wrong genes. Mutation of genes may occur spontaneously.

Symptoms

Epidermolysis bullosa is manifested individually in each patient. It occurs already in newborns or manifests in adolescence when body experiences higher physical load.

In addition to skin injuries, there are blisters in the mouth and larynx, difficulty when swallowing, biting and eating. Erosions and blisters can occur in the conjunctiva of the eyes, leading to visual impairment and causing great pain.

Blisters, abrasions and wounds

A gentle touch or rubbing is enough to disrupt the skin, which is as brittle as paper.

Slow wound healing

Almost the whole surface of the body of a patient with Epidermolysis bullosa is affected. The wounds tend to heal slowly due to inappropriate diet.

High probability of cancer

With this skin disease a patient is much more likely to develop a spinalioma than a healthy person (squamous cell carcinoma), a common cause of skin cancer.

Sensitive esophagus

Increased sensitivity of the esophagus is the reason for receiving mixed and mushy meals. Such a diet often leads to malnutrition.

Ingrown fingers

Fingers on upper and lower limbs grow back into the fist/ foot. The consequence is disability from an early age and the inability to use hands like a healthy person. Patients are rarely able to do any type of work (for example, sheltered workshops).

Low strength of body parts

Epidermolysis bullosa significantly affects hair, nails and teeth, so they are likely to fall out.

Related health problems

Other health problems are caused not only by the EB itself, but also by the lifestyle that people with the disease have to accept. It often leads to malnutrition, anemia, digestive problems, slow wound healing, growth retardation and muscle disorders or bone loss (osteoporosis).

Forms of Epidermolysis bullosa

Epidermolysis bullosa occurs in several forms depending on severity. Based on the common features, the 4 major types of EB of over 30 known subtypes are important. New types of disease are the subject of scientific research.

Simplex

The disease manifests through the fragile skin and blisters at the friction points most commonly found on the palms and feet. Depending on the subtype, injured parts of the body may be equally sensitive during all seasons, especially in summer.

This type is caused by a lack of proteins (keratin) in the skin. Keratin gives it strength, durability and shape. Lack of keratin causes low strength and sensitivity to friction. Blisters are formed even at the slightest touch.

Junctional

JunctionalEB is the most severe of all forms. It causes internal and external blisters which are often fatal. Living with this type is very difficult because it affects the digestive system in addition to the skin. It occurs only in 5% of people with EB.

dystrophic

This form occurs in 25% of patients. A typical symptom is scarring of already healed wounds resulting in ingrown fingers, narrowing of the esophagus, contraction of joints and membranes of the mouth.

Kindler's syndrome

In this type of EB, blisters occur in multiple layers of skin. Typical locations are the inner lining of the mouth, intestines and eyes.

Treatment and treatment of patients with EB

The patient should be treated with extreme caution. The skin is fragile and prone to breaking, which is very painful. Treatment on a soft surface is recommended to minimize friction and abrasion.

How to remove old bandages?

Before the treatment of wounds and blisterson the skin, it is necessary to get rid of old bandages. They tend to grow into the skin in a short time. It is necessary to soak the bandages before tying them. Soaked bandages peel easily from the skin, removing them is less painful for the patient.

Bathing and hygiene

Bathing is recommended 2-3 times a week due to the length of treatment and dressing of wounds. It is recommended to add a disinfectant and oil to lubricate the skin during the bath. Herbs that have a positive effect on the skin, such as rapeseed and marigold may also be used.

Skin and blister treatment

After the bath, the skin is treated with special ointments, gels, solutions and topical antibiotics. Antibiotics should not be used for a long time. Hardened skin and rattles are treated with salicylic acid grease. Loose skin should be cut off to prevent blistering. These arise from the pressure caused by the accumulated skin on the surrounding areas.

The blisters should be punctured with a sterilized needle and the blood or liquid expelled. Open wounds are first disinfected and then covered with a special grid to prevent the skin from sticking to the bandage.

Bandaging of fingers

Fingers on the hands are bandaged separatelyby a special technique intended for people with EB disease.

Oral cavity treatment

Sage and methylene blue solution are used to treat blisters and erosions in the oral cavity.

Advanced treatment is the subject of research

Gene therapy

One of the methods studied in Europe and the USA is the gene therapy. Such treatment is intended to replace defective genes. The biggest problem is the delivery of the right genes to the whole body.

Protein therapy

The subject of therapy is the delivery of a protein that is missing in the patient. It is obtained in laboratories from a cloned human gene. According to preliminary research, collagen protein is a way to temporarily improve wound healing. As with other treatments, it is still under development.

Cell therapy

It consists of injecting genetically correct cells into the patient's body. The cells may come from the donor or from the patient's body after they have undergone genetic modificatio.

Worldwide, research into cell therapy involves methods of bone marrow transplantation (systemic cell therapy) and local therapy, i.e. injecting cells into wounds and blisters to accelerate healing and increase skin firmness.

Side effects of EB

Many patients tend to avoid eating foods that are painful to process and digest. They prefer mashed and liquid meals, which leads to an inappropriate diet.

As a result of poor nutrition and nutrient breakdown, tooth decay and other disorders such as malnutrition, slow wound healing, anemia and growth retardation are more common.

Limitations in life

You can read more about the limitations in life of patients with EB in the article What the life with Epidermolysis bullosalooks like.

 

   
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