About Epidermolysis Bullosa (EB)

EB is caused by mutations in genes which consist of long strands of DNA responsible for making and expressing proteins. At least 18 genes have been identified to cause EB. These mutations, or errors in the genetic code, may not allow the affected gene to produce a specific protein at all, or to produce a defective protein with deleterious functions. Either way, the affected protein does not work correctly and thus resulting in extremely fragile skin. Clinical manifestations of other EB subtypes include anemia, cardiomyopathy, syndactyly (fusion of the fingers and toes), renal insufficiency, dysphagia (difficulty swallowing), malnourishment, cancer, constipation, osteoporosis, muscular dystrophy and pyloric atresia. The number of EB patients is estimated to be around 60,000 in US and EU combined.

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