Epidermolysis bullosa pruriginosa (EBP) is one of the rare clinical variants of dystrophic epidermolysis bullosa characterized by trauma‐induced bullae formation, milia, and nail dystrophy accompanied by severe pruritus. Treatment pruritus of EBP focuses on immunosuppressive treatment with limited efficacy. Treatment strategies are not well‐established. The study aimed to provide the genetic characterization of a multi‐generational EBP family and discuss the effectiveness of intravenous immunoglobulin treatment in EBP. The researchers determined the clinical characteristics of patients diagnosed with EBP in three consecutive generations. The mutation is analyzed in the index patient’s genomic DNA by Sanger sequencing, and they confirmed this mutation in other affected members of the family. The doctors treated index cases with severe phenotype with intravenous immunoglobulin (IVIG).
As a result that they identified a heterozygous single nucleotide transition, c.6127G>A, in exon 73 of COL7A1 in all affected members. Physical examination of patients revealed lichenoid papules on extensor surfaces of extremities, excoriations, milia formation, and nail dystrophy. Most patients had elevated serum IgE levels (%86 (6/7)) without a medical history for atopy. Female patients had generalized involvement and severe phenotype. The skin lesions of the index case were refractory to high-dose systemic steroids and cyclosporine treatment. Lesions improved significantly with intravenous immunoglobulin therapy. In extreme cases, unresponsive to other therapies, IVIG may be a preferable therapeutic approach to modulate the inflammatory response in patients with EBP.
Ref: https://onlinelibrary.wiley.com/doi/10.1111/ijd.14951
