A Review-Living with Butterfly Skin Disease

Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes, with an incidence of 1/50,000. Its severity ranges from mild to lethal. The skin is extremely fragile: minor mechanical friction or trauma will separate the layers of the skin and form blisters. People with this condition have an increased risk of cancers of the skin, and many will eventually be diagnosed with it as a complication of the chronic damage done to the skin. The skin has three layers; the outermost layer is the epidermis, and the middle layer is the dermis. In individuals with healthy skin, there are protein anchors between the layers that prevent them from moving independently from one another (shearing). In people born with EB, these top skin layers lack the protein anchors that hold them together, and any action that creates friction between them (like rubbing or pressure) will create blisters and painful sores. Sufferers of EB have compared the sores with third-degree burns. Current clinical research at the University of Minnesota has included a bone marrow transplant to a 2-year-old child who is one of 2 brothers with EB. Sulforaphane, a compound found in broccoli, was found to reduce blistering in a mouse model to the point where affected pups could not be identified visually, when injected into pregnant mice (5 μmol/day = 0.9 mg) and applied topically to newborns (1 μmol/day = 0.2 mg in jojoba oil).