Epidermolysis bullosa

Epidermolysis bullosa (EB ) (also butterfly disease) is a genetic skin disease that is inherited in an autosomal dominant or recessive depending on the subtype. Is a congenital cause mutation in specific genes, whose gene products (proteins) necessary for the intact cellular structure of the skin, among others. The mechanical connection between the different layers of the skin is insufficiently formed thereby may vary according to subtype blisters and sores with possible scarring occur ( on and throughout the body, for example, mouth and esophagus ). The disease is colloquially referred to as butterfly skin.

Molding

Since 1999, the EB is divided according to expert consensus in three main forms that are listed in the table. The former practice of classification based on molecular abnormalities was not considered appropriate because of the pronounced genetic diversity.

Epidermolysis Bullosa is not contagious, does not affect the intelligence, but leads to more or less severe disabilities and can lead to premature death. Possible adverse effects and consequences are malnutrition, short stature, finger and Zehenverwachsungen, tooth decay, hair loss, mobility disability, skin cancer and pain.

Therapy

The treatment involves the regular (several times daily ) wound care. Currently, there is no curative therapy.

Gene therapy is currently the only hope for a real cure. Here there was the promising report of a patient who remained symptom-free by transplantation of genetically modified skin cells, at least on the transplanted skin recently.