Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa-5-Year Outcomes

Inherited junctional epidermolysis bullosa is a severe genetic skin disease that leads to epidermal loss caused by structural and mechanical fragility of the integuments. There is no established cure for junctional epidermolysis bullosa. We previously reported that genetically corrected autologous epidermal cultures regenerated almost an entire, fully functional epidermis on a child who had a devastating form of junctional epidermolysis bullosa. We now report long-term clinical outcomes in this patient. (Funded by POR FESR 2014-2020 - Regione Emilia-Romagna and others.) Brief Report: Transgenic Epidermis in Junctional Epidermolysis Bullosa A child with junctional epidermolysis bullosa caused by a recessive loss-of-function mutation in LAMB3 who had epidermal loss on 80% of his total body-surface area received 1 m(2) of genetically corrected autologous epidermal cultures. Outcomes at approximately 5 years after transplantation are reported.