A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib.

Abstract

Dystrophic epidermolysis bullosa (DEB) is a heterogeneous and rare genetic skin disease caused by mutations in the COL7A1 gene, which encodes Type VII collagen. The absence or dysfunction of Type VII collagen can cause the dense lower layer of the basal membrane zone of the skin to separate from the dermis, leading to blister formation and various complications. In different DEB subtypes, the severity of the phenotype is associated, to some extent, with the outcome of Type VII collagen caused by mutations in the COL7A1 gene, which may be reduced in expression, remarkably reduced, or completely absent. Here, we report a case of DEB caused by a mutation in the COL7A1 gene at a novel site, where the patient achieved favorable outcomes after treatment with upadacitinib. This study further expands the known COL7A1 gene mutation sites in the DEB subtype, providing new data for understanding the genotype-phenotype correlation and treatment of this disease.