Case of Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutation

The document described a case of non-Herlitz junctional epidermolysis bullosa (JEB) associated with a mutation in the COL17A1 gene. This condition is characterized by skin fragility and blistering, but the non-Herlitz form is generally less severe than the Herlitz type. The report highlighted the clinical features and genetic findings of the patient, contributing to the understanding of the genetic basis and variability of JEB. The study emphasized the importance of genetic testing in diagnosing and managing this rare skin disorder.