Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa (IEB)

Background: Inherited epidermolysis bullosa (IEB) represents a group of rare genetic dermatoses comprising a wide spectrum of phenotypes ranging from severe cutaneous and extracutaneous involvement to mild cutaneous fragility. Pathogenic variants have been identified in at least 20 genes responsible for IEB. Materials and methods: In this study, 6 cases of epidermolysis bullosa were recruited and subjected to a combination of clinical and genetic analysis. The family history of each case was surveyed. Whole exome sequencing was utilized to identify the causative variation. Results: The 6 patients enrolled manifested with typical EB symptoms. WES detected diagnostic variations of the COL7A1 or DST gene in all cases. A total of 10 variants were identified and verified. Conclusion: The findings in our study further expanded the mutation spectrum of IEB, provided evidence for the genetic counseling to affected families, and also highlighted the complexity of IEB pathogenesis.