Epidermolysis bullosa


Epidermolysis bullosa

Description epidermolysis bullosa

Designation epidermolysis bullosa is a relatively large group of diseases, which may occur between very considerably different in their development, course and the like. In principle, they may be divided to form obtained (meaning acquired during life): epidermolysis bullosa acquisita. Another group are the diseases that are inheritable: epidermolysis bullosa simplex, epidermolysis bullosa junctionalis, epidermolysis bullosa dystrophica.

Each disease will be described in terms of its origin (where known), clinical course and treatment (if treatment is known).

 

Epidermolysis bullosa acquisita

Causes and development of the EBA

Epidermolysis bullosa acquisita (EBA) is acquired disease during life. It is more a disease of adults,but there are cases in children.

It is a chronic dermatoses (skin disorders). For unknown reason the patient begin to form antibodies against collagen type VII, which is present in the anchoring fibrils skin structure. These antibodies cause damage to these structures, resulting in reduced resistance of the skin, particularly to mechanical influences.

Signs and symptoms of EBA

EBA is characterized by the fact that the clinical picture is very diverse. Dermatologists, however, two basic types of the disease:

a) classic inflammatory form: minor trauma to the skin causing tense blisters, which are located on the hands and feet. Blisters heal the scars where the small nodules called milia

b) inflammatory form of EBA: a basic form of the emergence of reddened skin or the emergence of bearings character urticaria. On this terrain formed blisters, that have partly clear content, and content partly cloudy blood. Half of the patients also have damage to the oral mucosa.

treatment EBA

Treatment is very difficult and problematic. Currently tested patients administered corticosteroidsor cyclosporine (cyclosporin A in a dose of 5 mg per 1 kg body weight of the patient).

Other drugs are administered sulfone, colchicine or administration of immunoglobulin.

 

Hereditary (hereditary) epidermolysis

It is a heterogeneous group of diseases of the skin and mucous membranes, which are hereditary,and also rare. The common denominator of these diseases is sowing localized and generalized blistering of the skin or mucous membrane as a result of even minimal mechanical stimulus.

Epidermolysis bullosa simplex epidermolysis bullosa junctionalis epidermolysis bullosa dystrophica

 

Epidermolysis bullosa simplex

Causes and development of EBS

Within this disease we distinguish 11 different forms of the disease. Most of them are caused by mutations in the genes for keratin 5 and 14, which are the substances important for the structure and activity of keratinocytes – skin cells. Transmission to offspring is autosomal dominant.

Signs and symptoms of EBS

The disease is characterized by blistering, which are caused by minimal mechanical and thermal stimuli. Localized epidermolysis bullosa simplex manifests often in young adults, when the skin of hands and feet form a thick-walled blisters in response to mechanical stimulus minimum.

Some patients have blisters form only in the summer. The generalized form of epidermolysis bullosa simplex starts after birth, when formed blisters on the legs. Nails and mucous membranes are not affected by this disease.

 

Epidermolysis bullosa junctionalis

Causes and development EBJ

It is a very difficult disease that is caused by mutations in the gene for the laminin 5, which again is a protein of anchoring fibrils (see above). Transfer time is autosomal recessive.

Signs and symptoms of EBS

A patient at the time of his birth has a large, poorly healing erosions. The disease has also several forms, but the so-called. Herlitzova type or epidermolysis bullosa junctionalis gravis are damaged mucous membranes, nails and teeth.

Affected children die in the first year of life (40% of them already during the first year). The cause of sepsis (bacteria and their products to get the blood to the organs).

 

Epidermolysis bullosa dystrophica

Causes and development EBD

Even this form is characterized by blistering, which heal with scar using mile (see above). Mutations of the gene for collagen VII is transmitted autosomal dominant and recessive. Dermatologists describe four types of this disease, the most serious is epidermolysis bullosa dystrophica generalisata mutilans or even Hallopeaův- Siemensův syndrome.

Signs and symptoms of EBD

A generalized form has a serious course, arises immediately after birth. Formed blisters, knots, damaged teeth, mucous membranes and joint contractures.

treatment with EBD

It is mostly symptomatic, is promašťování skin, preventing secondary infection. Furthermore administered corticosteroids, antibiotics, phenytoin. For contracture is indicated for surgical treatment.

 

Complications epidermolysis bullosa

The most common complication is bacterial infection and sepsis.

Other names: epidermolysis bullosa, epidermolysis bullosa hereditaria, epidermolysis bullosa acquisita, EBA, epidermolysis bullosa simplex, EBS, epidermolysis bullosa junctionalis, EBJ, epidermolysis bullosa dystrophica, EBD

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