Epidermolysis Bullosa Pruriginosa

Abstract

The clinical features of EB pruriginosa are becoming more widely recognized, but dermatologists, dermatopathologists, and histopathologists should be aware that inflammatory infiltrates and late presentation are potential pitfalls in correctly diagnosing this subtype of hereditary EB.

Burden of itch in epidermolysis bullosa

“…One study suggests that this form is usually caused by a glycine substitution, and some missense mutations of glutamine to arginine were reported. 15 However, no clear genotypephenotype correlation in this particularly pruritic type of DEB was found. It is probable that other, as yet unknown, genetic, behavioural and environmental factors contribute to the subtype of pruriginosa.…”

“…In order to diagnose a predisposing genetic defect it might be helpful to investigate the genome of patients with EB pruriginosa – a specific, rare pruritic variant of DEB. One study suggests that this form is usually caused by a glycine substitution, and some missense mutations of glutamine to arginine were reported . However, no clear genotype–phenotype correlation in this particularly pruritic type of DEB was found.…”

“…However, no clear genotype–phenotype correlation in this particularly pruritic type of DEB was found. It is probable that other, as yet unknown, genetic, behavioural and environmental factors contribute to the subtype of pruriginosa . An argument for this hypothesis is the case report of a 22‐year‐old patient with JEB with coexisting prurigo‐like lesions such as in DDEB pruriginosa .…”

“…It is probable that other, as yet unknown, genetic, behavioural and environmental factors contribute to the subtype of pruriginosa. 15 An argument for this hypothesis is the case report of a 22-year-old patient with JEB with coexisting prurigo-like lesions such as in DDEB pruriginosa. 16 In this patient, a simultaneous reduction of collagen XVIII and filaggrin expression was determined.…”

Dupilumab in the treatment of genodermatosis: A systematic review

“…Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa caused by a mutation in the COL7A1 gene, which encodes the alpha chain of type VII collagen 45 . Patients with EBP typically present with intensely pruritic blisters as well as lichenified papules and plaques that scar over the extensor site of the extremities 46 . In the included studies, dupilumab exhibited not only significant improvements in pruritus, but also effects in decreasing new blister formation in EBP patients 20,22,23 .…”