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Epidermolysis bullosa: genetic disease is marked by skin fragility

Epidermolysis bullosa: genetic disease is marked by skin fragility

Epidermolysis bullosa is the name given to a set of hereditary diseases that cause blisters on the skin from any type of trauma. There are many types of epidermolysis bullosa, with varying clinical conditions and different modes of genetic transmission.

The marked characteristic of this disease is skin fragility, and any touch or trauma, even if minimal, causes blistering of the skin. The cause of epidermolysis bullosa is the mutation and alteration of genes. These genetic alterations affect specific components of the basement membrane area at the junction between the epidermis and the dermis.

As we know, the skin is made up of three layers that are respectively called the epidermis (outer), the dermis , fibers, sebaceous pilo follicles) and hypodermis, which is fat. In epidermolysis bullosa, due to the genetic defect there is a detachment of the epidermis, facilitating the formation of blisters and bruises in children. Types of epidermolysis bullosa

There are several types of epidermolysis bullosa, always related to the type of compromised structure. In the simple epidermolysis bullosa group, there are four clinical subtypes: Weber, Cackayne, Koebner, Dowling Meara. There is also epidermolysis bullosa simple with late muscular dystrophy.

These differences occur due to the various mutations affecting specific zones of the dermoepidermal junction. There are more than 20 clinical variants of epidermolysis bullosa described in the literature. Hereditary patterns and clinical forms are classified by electron microscopy, according to the plane of blister cleavage at the junction of the dermis and epidermis.

In general, most epidermolysis bullosa are of autosomal dominant inheritance. Characteristics of the disease

Any type of epidermolysis bullosa is characterized by the appearance of blisters with yellow, or even bloody, fluid in areas of greater trauma, such as hands and soles. When bubbles occur in these areas there are many difficulties with day to day tasks. Other regions such as knee and elbow are also affected.

The manifestations of epidermolysis bullosa, as a genetic disease, already appear at birth and in early childhood. Some of them are very serious at birth, leading to the appearance of large blisters and bleeding that, over time, become smaller and more localized.

Many types of bullous epidermolysis can improve puberty. Some variants can evolve into scars and also formation Mily (yellow pellets with tallow inside). There may be changes in the nails and also hair loss, as well as impairment of oral mucosa and teeth and other organs such as, gastrointestinal tract. In some of them, muscle weakness can also arise, making movements difficult.

In severe cases of epidermolysis bullosa, there is poor tooth formation, dystrophic nails and also cicatricial alopecia. In these more severe cases, there is widespread impairment, such as anemia and growth retardation. Because of skin fragility and blistering, there may be secondary infection.

As explained, the cause of epidermolysis bullosa is related to genetic changes, which lead to defects in the junction of the cells, releasing the layers of the skin. Several structures of keratin are affected, as are desmosomes, which are structures that cling to one cell in the other. The collagen fibers involved in these skin binding structures are also affected.


Epidermolysis bullosa can not be prevented. The diagnosis can only be confirmed by performing a biopsy that is accompanied by immunofluorescence, can identify where the cleavage site is and diagnose the type of epidermolysis.

Electron microscopy is considered the most accurate diagnostic method. There may be genetic / molecular diagnosis, and prenatal diagnosis is indicated for some more severe epidermolysis. The differential diagnosis is made with diseases that have blisters, such as benign familial pemphigus, congenital porphyria, bullous pemphigoid of childhood, bullous impetigo and scalded skin syndrome.


There is no specific treatment for epidermolysis bullosa, since still there is no medication that controls or prevents the onset of blisters. Attempts at treatment are made with assets such as phenytoin, antimalarials, corticosteroids and retinoids, but without effective success.

Preventing injuries

The most important remains the prevention measures, which should be instituted as early as possible to avoid blistering, prevention of infections, early healing and prevention of sequelae.


Clothing and footwear should be lightweight and do not cause friction on the skin. Padded dressings should be worn in areas more susceptible to trauma, such as knees and elbows, and gloves, socks, knee pads and elbows of non-adherent materials.

In dystrophic forms, care should be taken to avoid finger pseudosynchesis part of the fingers). The use of gloves made of non-stick material, separating the fingers, is a good option. If the patient develops a pseudosynchleis, he or she should be evaluated by the orthopedist for finger surgery.

Blisters and dressings

The blisters present should be emptied with a sterile needle to relieve pain and facilitate healing , and the eroded lesions should be washed with antiseptic soaps and covered with sterile dressings.

Dressings should be made covering the lesions with essential fatty acids or mineral and vegetable oils with subsequent placement of non-adherent gauzes, silicone dressings or non-hydrocolloids. adherents, to avoid traction and bubble formation at the time of dressing removal. These should be removed during bathing when they are moist.


The topical antibiotic is indicated for secondary and non-prophylactic infection, as it may induce bacterial resistance. Systemic antibiotics should be instructed in extensive infections because of the risk of septicemia in these patients. In the junctional forms, due to the change in tooth enamel and the high incidence of caries, the diet should be hypoglycemic (with low sugar) and oral hygiene care should be potentiated with the use of soft brushes and mouthwashes with fluoride and chlorhexidine.


Patients should be encouraged to walk and move arms and legs to avoid contractures resulting from limitation


Nutritional care is fundamental for patients with more severe forms that present difficulties to feed, and should receive a caloric diet (caloric) and hyperproteic (high protein), similar to that recommended for second burns degree. If there is difficulty in swallowing, crushed or pasty foods are recommended, in small proportions and several times a day. Anemia should be corrected with iron supplementation.

Patients with more severe forms should be treated by a multidisciplinary team that includes both dermatologist, orthopedist, nutritionist, pediatrician, psychologist, physiotherapist, and ondologist to minimize sequelae. > Gene therapy

The great future perspective will be the gene therapy that will make it possible to correct the genetic defect at the molecular level. Experimentally, gene transfer has already been performed for keratinocytes from rats with junctional epidermolysis bullosa, or transfer of fibroblasts in animal models with dystrophic epidermolysis bullosa or, furthermore, in vitro and human experimentation, all with subsequent functional normalization.More recently, therapeutic evidence has been demonstrated with a population of embryonic bone marrow cells correcting the basement membrane defect of rats and humans with recessive dystrophic epidermolysis bullosa.

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