Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

The study described a case of epidermolysis bullosa simplex (EBS) in a 39-year-old Syrian man, caused by a homozygous nonsense mutation in the DST gene, leading to a truncated BPAG1-e protein. This mutation resulted in an intermediate generalized phenotype with skin fragility, blistering, and prurigo papules. Genetic testing and immunoblot analysis confirmed reduced BPAG1-e expression. The study suggested a potential link between the truncated protein and severe pruritus, possibly due to an inflammatory response, and highlighted the role of BPAG1-e in skin integrity and pruritus. These findings contributed to the understanding of the genetic basis and clinical manifestations of EBS.