[Epidermolysis bullosa : Diagnosis and therapy]

Hereditary epidermolysis bullosa is characterized by mechanically induced blistering of the skin and mucous membranes. The causative mechanisms are based on mutations in genes for structural proteins of the epidermis and the dermal-epidermal junction zone. EB is genetically and clinically heterogeneous. Based on the clinical phenotype alone, the diagnosis is difficult in newborns and toddlers, and sometimes even in adults. A precise diagnosis is only possible with laboratory tests like immunofluorescence mapping, electron microscopy and mutation analysis in specialized centers. The treatment is symptomatic and based on the principles of good wound management and - for severe cases - on multidisciplinary care. New data on the pathogenetic mechanisms of epidermolysis bullosa deliver perspectives for development of novel molecular therapies.