{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:03:39Z","timestamp":1790229819493,"version":"4.1.0"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:00:00Z","timestamp":1790208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>\n                    Recessive dystrophic epidermolysis bullosa (RDEB) results from biallelic\n                    <jats:italic>COL7A1<\/jats:italic>\n                    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\n                    <jats:italic>COL7A1<\/jats:italic>\n                    c.5605G&amp;gt;C (p.Gly1869Arg) and c.5532+5G&amp;gt;A, inherited from different parents and therefore occurring in trans. Contemporary ACMG\/AMP reassessment classified c.5532+5G&amp;gt;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.\n                  <\/jats:p>","DOI":"10.3389\/fimmu.2026.1956336","type":"journal-article","created":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T05:37:35Z","timestamp":1790228255000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: dupilumab for severe pruritus in pediatric recessive dystrophic epidermolysis bullosa\u2014a longitudinal clinical assessment and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Linli","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Dermatology, Suining Central Hospital","place":["Suining, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Suining Central Hospital","place":["Suining, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Suining Central Hospital","place":["Suining, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kehan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Suining Central Hospital","place":["Suining, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunshui","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Suining Central Hospital","place":["Suining, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,24]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1038\/s41572-020-0210-0","article-title":"Epidermolysis bullosa","volume":"6","author":"Bardhan","year":"2020","journal-title":"Nat Rev Dis 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Dermatol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.cell.2017.08.006","article-title":"Sensory neurons co-opt classical immune signaling pathways to mediate chronic itch","volume":"171","author":"Oetjen","year":"2017","journal-title":"Cell"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18855","article-title":"Treatment of epidermolysis bullosa pruriginosa-associated pruritus with dupilumab","volume":"182","author":"Shehadeh","year":"2020","journal-title":"Br J Dermatol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16729","article-title":"Successful treatment of epidermolysis bullosa pruriginosa by dupilumab","volume":"50","author":"Wu","year":"2023","journal-title":"J Dermatol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1111\/ddg.15416","article-title":"Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa","volume":"22","author":"Gewert","year":"2024","journal-title":"J Dtsch Dermatol Ges"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.17753","article-title":"Efficacy and safety of dupilumab monotherapy in patients with dystrophic epidermolysis bullosa: a retrospective study of 8 cases","volume":"52","author":"Dou","year":"2025","journal-title":"J Dermatol"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1155\/dth\/8857224","article-title":"The clinical efficacy and safety of dupilumab monotherapy in dystrophic epidermolysis bullosa: a retrospective real-world study","volume":"2026","author":"Wang","year":"2026","journal-title":"Dermatol Ther"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24088","article-title":"Fitting a naturally scaled point system to the ACMG\/AMP variant classification guidelines","volume":"41","author":"Tavtigian","year":"2020","journal-title":"Hum Mutat"},{"key":"B13","unstructured":"Uniprotkb Entry Q02388: Collagen Alpha-1(VII) Chain (COL7A1), Homo Sapiens; Triple-Helical Region 1254-2784"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.77.032207.120833","article-title":"Collagen structure and stability","volume":"78","author":"Shoulders","year":"2009","journal-title":"Annu Rev Biochem"},{"key":"B15","unstructured":"Clinvar Variation ID 372341: NM_000094.4(COL7A1):C.5605G>C (P.Gly1869Arg)"},{"key":"B16","unstructured":"Clinvar VCV001458606.9: NM_000094.4(COL7A1):C.5532+5G>a"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2010.04642.x","article-title":"A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma","volume":"50","author":"Huang","year":"2011","journal-title":"Int J Dermatol"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14493","article-title":"Epidermolysis bullosa pruriginosa treated with dupilumab","volume":"38","author":"Zhou","year":"2021","journal-title":"Pediatr Dermatol"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1111\/dth.15130","article-title":"Amelioration of dystrophic epidermolysis bullosa pruriginosa symptoms with dupilumab: a case report","volume":"34","author":"Wang","year":"2021","journal-title":"Dermatol Ther"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17887","article-title":"A case of dystrophic epidermolysis bullosa pruriginosa treated with dupilumab","volume":"36","author":"Caroppo","year":"2022","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1089\/DERM.0000000000000954","article-title":"Dystrophic epidermolysis bullosa pruriginosa: successfully treated with dupilumab","volume":"34","author":"Yu","year":"2023","journal-title":"Dermatitis"},{"key":"B22","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.jdcr.2024.06.003","article-title":"Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab","volume":"50","author":"Caroppo","year":"2024","journal-title":"JAAD Case Rep"},{"key":"B23","unstructured":"DUPIXENT (Dupilumab) Injection: Prescribing Information. Reference ID 5785290; Label 761055s074 (2026)\n          \n          2026"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1956336\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T05:37:40Z","timestamp":1790228260000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1956336\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,24]]},"references-count":23,"alternative-id":["10.3389\/fimmu.2026.1956336"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2026.1956336","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,24]]},"article-number":"1956336"}}