2017 年 63 巻 2 号 p. 98-103
Recessive dystrophic epidermolysis bullosa (RDEB) is the most severe form of epidermolysis bullosa, a group of genetic skin fragility disorders. Blisters, skin erosion, and scars form all over the body, including mucous membranes in patients with RDEB. The pathogenesis of RDEB involves mutations of the COL7A1 gene encoding type VII collagen, the main constituent of anchoring fibrils that attach the epidermis to the dermis. Persistent skin erosion frequently results in intractable ulcers. As the ulcers heal, they result in severe scarring. Long-term inflammation of skin ulcers all over the body may cause secondary amyloidosis leading to chronic renal failure. In addition, patients with RDEB are at a high risk of skin cancer. Although there is no curative therapy for patients with RDEB, various kinds of biological dressings, including cultured skin substitutes, have been employed for the treatment of intractable ulcers. Nonetheless, allogeneic cultured skin cannot be permanently adopted. Autologous cultured skin lacks type VII collagen. Adipose-derived stromal/stem cells (ASCs) are easily harvested in large quantities from a minimal donor site, and show less immunogenicity and a powerful immunosuppressive potential. In addition, ASCs can differentiate into keratinocyte-like cells. Stem cell therapies using allogeneic ASCs may be applicable to the treatment of RDEB and other skin diseases in near future.
