Induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of genetically inherited skin disorders affecting nearly 1 to 3 of every 100,000 live births and almost 500,000 individuals worldwide (1). Autosomal recessive dystrophic EB (RDEB) is an aggressive EB subtype (approximately 25% of EB cases), caused by COL7A1 gene mutation encoding type VII collagen and resulting in binding defect of epidermis to dermal tissue, excessive skin and mucosal fragility, blistering and scarring. Lesions occur below the basement membrane zone in the upper part of the dermis. Until today no definite therapy is available and patients suffering from RDEB are managed conservatively avoiding skin damage and aiming in improve quality of life and reducing the risk of developing complications, such as infection and malnutrition, or undergo surgical or minimal invasive palliative procedures (2,3). Current research strategies include protein, gene and molecular therapies (4-6). In their article “Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa” Sebastiano et al. propose an innovating cell therapy for RDEB treatment, by developing a state of the art protocol of genetically repaired induced pluripotent stem cells (iPSCs) as to generate sheets of normal skin tissue to treat affected skin areas (7). Moreover, as numerous stem cells are needed in order to cover the affected surface area, authors outline the necessity for creating personalized iPSCs banks as to provide a constant long-term iPSCs source.