Case Report: dupilumab for severe pruritus in pediatric recessive dystrophic epidermolysis bullosa—a longitudinal clinical assessment and literature review

Recessive dystrophic epidermolysis bullosa (RDEB) results from biallelic COL7A1 variants and causes trauma-induced blistering, scarring, and progressive extracutaneous complications. Severe pruritus may intensify skin injury through an itch-scratch cycle. We report a 7-year-old, 25-kg girl with infantile-onset generalized blistering, severe pruritus, mucosal and nail involvement, scarring, and digital contractures. Histopathology showed a subepidermal blister. Sequencing identified heterozygous COL7A1 c.5605G>C (p.Gly1869Arg) and c.5532+5G>A, inherited from different parents and therefore occurring in trans. Contemporary ACMG/AMP reassessment classified c.5532+5G>A as pathogenic and p.Gly1869Arg as likely pathogenic; together with the phenotype and segregation findings, these variants supported a molecular diagnosis of RDEB. Because severe pruritus and inflammatory erosions persisted despite supportive care, off-label dupilumab was initiated with a 600-mg loading dose followed by 300 mg every 4 weeks. Routine wound care was continued, while caregiver-reported use of cetirizine drops and topical fusidic acid was intermittent during follow-up. Prospective assessments at baseline and weeks 4, 8, 12, and 16 documented a reduction in pruritus numerical rating scale (NRS) score from 7 to 1 as the primary clinical observation. Secondary descriptive changes included decreases in the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) activity score from 52 to 32 and pain NRS from 4 to 1, and a change in hand-function grade from 3 to 2. Photographs showed fewer active erosions and crusted lesions, whereas established scarring and contractures persisted. No adverse events considered related to dupilumab were observed during 16 weeks. Because this was an uncontrolled observation with continued background care, the changes do not establish causality. No patient-specific type 2 inflammatory biomarkers were measured.