Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa

Abstract

BackgroundEpidermolysis 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.AimTo provide the genetic characterization of a multi‐generational EBP family and discuss the efficacy of intravenous immunoglobulin treatment in EBP.Materials & methodsThe 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).ResultsA 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.ConclusionIn severe cases, unresponsive to other therapies, IVIG may be a preferable therapeutic approach to modulate the inflammatory response in patients with EBP.

Pruriginosa Pattern of Dystrophic Epidermolisys Bullosa: Clinical Case

“…В настоящее время нет единого эффективного метода лечения пруригинозной формы ДБЭ, но имеются отдельные опубликованные данные об успешном применении топических, внутриочаговых и системных глюкокортикостероидов [9], топического такролимуса [10], топического кетамина и амитриптилина, тетрациклических антидепрессантов [11], интравенозного иммуноглобулина класса G (IVIg) [12], дупилумаба [13][14][15], барицитиниба [16], тофацитиниба [17], циклоспорина А [18,19], талидомида [20] и налтрексона [21].…”

Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study

“…Different modalities have been used in DEB pruriginosa in individual cases or small series including thalidomide, [ 37 ] ciclosporin, [ 38 , 39 ] intravenous immunoglobulin, [ 40 ] topical ketamine and amitriptyline gel with oral mirtazapine [ 41 ] and oral janus kinase inhibitors [ 42 , 43 ]. Recent reports have demonstrated encouraging responses with omalizumab anti-immunoglobulin E monoclonal antibody, [ 44 ] and dupilumab against interleukin 4 and interleukin 13 [ 45 – 49 ].…”