Epidermolysis bullosa is a group of inherited skin fragility diseases varying in severity from mild scarring to infant mortality. Great efforts are being undertaken to develop therapeutic strategies to treat the more pernicious forms of this disease, particularly those associated with recessive, loss of function mutations. In such cases significant effort is directed toward delivering recombinant protein at levels sufficient to demonstrate clinical benefit. Recessive dystrophic epidermolysis bullosa (RDEB) predisposes patients to a high incidence of life threatening cutaneous squamous cell carcinoma (cSCC). Mutations in the gene encoding type VII collagen, COL7A1, are the sole cause of this disease and conflicting reports concerning type VII collagen and COL7A1 in carcinogenesis exist.
Pourreyron, C., Chen, M., McGrath, J. A., Salas-Alanis, J. C., South, A. P., & Leigh, I. M. (2014). High levels of type VII collagen expression in RDEB cSCC keratinocytes increases PI3K and MAPK signalling, cell migration and invasion. British Journal of Dermatology, 170(6), 1256-1265. https://doi.org/10.1111/bjd.12715