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

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 report

SUBMITTER: Zhao C 

PROVIDER: S-EPMC10655508 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature