Molecular diagnostics of epidermolysis bullosa: novel pathomechanisms and surprising genetics

Tremendous progress has been recently made in understanding the molecular basis of epidermolysis bullosa (EB), and as of today specific mutations have been delineated in 10 distinct genes in different subtypes of this genodermatosis. Molecular diagnostics of EB has implications for improved classification with prognostic significance, refined genetic counseling, and establishment of DNA-based prenatal testing. During elucidation of mutations in different variants of EB, novel pathomechanisms, including uniparental isodisomy in junctional EB and de novo dominant mutations in dystrophic EB, have been encountered. These observations have relevance to counseling the families of the risk of recurrence of EB in subsequent pregnancies in the same and future generations.