Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa

Pelin Ertop, Secil Vural, Ezgi Gökpınar Ili, Ceren D. Durmaz, Aylin O. Heper, John A. McGrath, Ruhi H. Ilgın, Ayse Boyvat

研究成果: Article同行評審

2 引文 斯高帕斯(Scopus)

摘要

Background: Epidermolysis bullosa pruriginosa (EBP) is rare a clinical variant 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. Aim: To provide the genetic characterization of a multi-generational EBP family and discuss the efficacy of intravenous immunoglobulin treatment in EBP. Materials & methods: The clinical characteristics of patients diagnosed with EBP in three consecutive generations were determined. The mutation is analyzed in the index patient's genomic DNA by Sanger sequencing, and this mutation was confirmed in other affected members of the family. Index case with severe phenotype was treated with intravenous immunoglobulin (IVIG). Results: A heterozygous single nucleotide transition, c.6127G>A, in exon 73 of COL7A1 was identified in all affected members. Physical examination of patients revealed lichenoid papules on extensor surfaces of extremities, excoriations, milia formation and nail dystrophy. Majority of 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. Conclusion: In severe cases, unresponsive to other therapies, IVIG may be a preferable therapeutic approach to modulate the inflammatory response in patients with EBP.

原文English
頁(從 - 到)851-855
頁數5
期刊International Journal of Dermatology
59
發行號7
DOIs
出版狀態Published - 2020 7月 1

All Science Journal Classification (ASJC) codes

  • 皮膚科

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