Recently Identified Forms of Epidermolysis Bullosa

Epidermolysis bullosa (EB) included a range of inherited blistering diseases affecting the skin and sometimes mucous membranes and other organs, classified into four main subtypes and over 30 clinical subtypes with mutations in at least 18 genes. This review highlighted three newly identified autosomal recessive variants of EB caused by mutations in DST-e, EXPH5, or ITGA3. It discussed the discovery of these genes, their clinical features, mutation databases, and skin pathology, emphasizing the importance of recognizing these new forms for better clinical evaluation and understanding of genotype-phenotype correlations in EB.