Background: Epidermolysis bullosa (EB), a group of blistering disorders, manifests with fragility of skin and mucous membranes, with considerable phenotypic variability. As many as 15 distinct genes have been shown to harbor mutations inheritable forms of EB. The types and combinations of mutations in these genes and their consequences at the mRNA and protein levels, when placed on the affected individuals' genetic background and the external trauma, explain the spectrum of phenotypes encountered in this disorder.
Methods: A group of eminent researchers and physician-scientists convened in Cancún, Mexico, as part of the CILAD-2010 Meeting, to discuss the most recent progress in diagnosis and management of patients with EB, with emphasis on development of novel treatment strategies.
Results: The information on specific mutations in the candidate genes has been helpful in establishing genotype/phenotype correlations and has formed the basis for prenatal testing and preimplantation of genetic diagnosis for EB.
Conclusions: In spite of the progress in molecular genetics of EB, there is no specific and effective treatment, and management of these patients continues to present tremendous clinical challenges. This overview summarizes the presentations and discussions in this international workshop.
© 2012 The International Society of Dermatology.