Epidermolysis bullosa (EB) is a hereditary disease characterized by blistering of the skin following minor friction or mechanical trauma. The condition varies from limited blisters in the skin to a lethal form involving internal epithelial lining. The management of EB is mainly supportive with symptomathic treatment, since currently no cure exists. In 1997, patches of unaffected skin were discovered on the hands and upper arms in a patient with EB. This natural correction was named “revertant mosaicism”. Since then, in a subset of Dutch patients revertant mosaicism was identified in 33-36%. However, only 2 other revertant EB cases have been identified outside the Netherlands. Our first aim is to share the knowledge from Groningen with the Center in Freiburg in order to identify more patients with EB and revertant mosaicism (aim 1). In addition, to increase the awareness among genodermatologists working with EB, we will organize an International Workshop on Revertant Mosaicism in EB (aim 2). Revertant mosaicism attests to the feasibility of cell therapy using the patient’s own naturally corrected cells for autotransplantation, and thereby circumvents the restrictions of genetic modification. Before a start can be made for successful cell therapy, optimal growth and selection conditions need to be identified (aim 3). The revertant keratinocytes will be subsequently used to generate a skin equivalent (aim 4) and tested in a skin-humanized mouse model suitable to test revertant cell therapy (aim 5).
EB
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