Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

BACKGROUND: Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB‐Pr). Duplilumab, a fully humanized anti‐IL‐4Ra monoclonal antibody, can inhibit IL‐4 and IL‐13‐driven signaling. METHODS: Ethical Compliance: Following our Institutional Review Board, genetic testing has been made available after completing a signed informed consent form. This article presents the case study of a DEB‐Pr patient who received dupilumab therapy. Genomic DNA was extracted from the peripheral blood of the patient. RESULTS: The findings showed that a unique COL7A1 mutation was discovered in the patient who underwent genetic testing. As a result of the patient receiving dupilumab treatment, the individual reported experiencing significantly less itching and considerably improved erythema, less severe scales, crusts, and flattening of plaques. CONCLUSION: In conclusion, the current investigation showed that to the best of our knowledge, this is the first DEB‐Pr patient with heterozygous COL7A1 (NM_000094.3:c.8110G>A [p. Gly2704Arg]) who responded positively to dupilumab treatment without experiencing any serious side effects.