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Background: Intermediate Junctional Epidermolysis Bullosa (JEB) is an extremely rare condition, with an incidence of slightly more than two per million live births. Patients with Epidermolysis Bullosa are classified using the "onion skinning" approach, which includes the major EB type, phenotypic characteristics, inheritance mode, targeted protein and its skin expression, gene involved, mutation types, and specific mutation(s) and location. This facilitates recognition of syndromic EB and aids in genetic counseling. Purpose: To report a patient with Intermediate JEB, perform a detailed ophthalmic evaluation, and identify the genetic cause through testing. Results: gene, likely disrupting mRNA splicing by altering the donor splice site. This mutation is expected to cause a frameshift and dysfunctional protein product. It was confirmed by Sanger sequencing. Conclusion: variant expands the known genotypic spectrum of JEB and enhances understanding of its molecular basis. This contributes to accurate diagnosis and improved genetic counseling for affected families.
Alzaben et al. (Wed,) studied this question.