As fragile as butterfly wings, the skin of butterfly children is so sensitive that the slightest touch can cause painful blisters to form. These butterfly children are born with a rare genetic condition known broadly as epidermolysis bullosa (EB). Their skin is unable to withstand the stress of everyday rubs and knocks, and bandages become part of their everyday routine. With technological advances in molecular genetics, as many as 18 causative genes have been identified in skin blistering disorders since the 1990s, leading to great improvements in EB classification and diagnosis. However, there is currently no effective therapy and cure for EB.
EB affects more than 30 families in Singapore, and an estimated half a million worldwide. Research into EB has provided deep insights into general skin biology, wound healing, and basement membrane structure and function. Your skin is made up of multiple layers of tightly packed cells (epidermis) which seats on top of a collagenous cushion (dermis). To anchor the epidermis down to the dermis in healthy skin, there exists a highly organized network of specialized interconnected structures. These structures consist of intermediate filaments like keratin, hemidesmosomes, anchoring filaments and anchoring fibrils. In the case of EB, mutations in the genes of these specialized structures lead to loss of adhesion within the skin, and blistering results.
With funding from an EB charity (DebRA International), we are working on understanding the mechanisms behind EB blistering and an effective therapy for EB. Mutations in the keratin gene can lead to dysfunctional keratin filament networks which clump together to form keratin aggregates in skin cells of patients with EB (simplex subtype). Our research suggests that the keratin aggregates in these EB skin cells may be reduced by the application of certain drugs. We hope to eventually develop promising treatments such as a cream formulation which could increase the strength of the EB skin, and give the patients a better quality of life.