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

<strong>Background: </strong>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. <strong>Materials and methods</strong>: 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. <strong>Results</strong>: The 6 patients enrolled manifested with typical EB symptoms. WES detected diagnostic variations of the <em>COL7A1</em> or <em>DST</em> gene in all cases. A total of 10 variants were identified and verified. <strong>Conclusion</strong>: 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.