[Epidermolysis bullosa].
The epidermolysis bullosa are a group of genodermatoses in which there is congenital fragility of the skin which produce blisters with the least of traumas. The group includes up to thirty clinical-genetical entities. They are classified according to the level where the blister is found into simplex or epidermolytic (intraepitelial blister), junctional (blister in the dermoepidermal junction) and dystrophic or dermolytic (subepidermal blister) epidermolysis bullosa. The symptoms, classic or Mendelian genetics and the recent findings in the most frequent forms of each one of these groups are reviewed. In most of them, the gene that produces the mutations and the chromosome in which its locus is found are known. In the simplex forms, the disorders lies in the genes that codify the different keratins. In the junctional ones, mutations are found in the laminin genes that act in the development of the anchoring filaments or in those of the other components of the basement membrane. In the dystrophic ones, which are the most serious, the mutations affect the collagen VII gene that codify the development of the anchoring fibrils. There is no treatment for any of the forms of epidermolysis bullosa. It is possible that the future advances in genetic engineering can contribute to their prophylaxis.
García Pérez
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D001485:Basement Membrane; D004820:Epidermolysis Bullosa / Q000145:classification / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D006801:Humans