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

Abstract

Abstract 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.

Keywords

• COL7A1 variant
• dupilumab
• dystrophic epidermolysis bullosa pruriginosa
• effective treatment
• novel variant