{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T06:15:49Z","timestamp":1778220949523,"version":"3.51.4"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"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. Med."],"abstract":"<jats:p>\n                    Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intensely pruritic blisters, prurigo-like nodules, and scarring on the extensor aspects of the extremities. We present a 43-year-old female patient with a 30-year history of recurrent erythematous plaques, nodules, and blisters, which was accompanied by severe pruritus affecting the scalp, back, and extremities. Whole-exome sequencing identified a heterozygous likely pathogenic variant in\n                    <jats:italic>COL7A1<\/jats:italic>\n                    (c.6760G&amp;gt;A, p.Gly2254Arg), a heterozygous variant of uncertain significance (VUS) in\n                    <jats:italic>CARD14<\/jats:italic>\n                    (c.2172C&amp;gt;A, p.Tyr724*), and a heterozygous pathogenic variant in\n                    <jats:italic>G6PD<\/jats:italic>\n                    (c.1388G&amp;gt;A, p.Arg463His). Combined with the patient\u2019s clinical manifestations, histopathological findings, direct immunofluorescence results, negative results for pemphigus and pemphigoid autoantibodies, genetic testing results, and past medical history, the patient was diagnosed with refractory DEB-Pr and glucose-6-phosphate dehydrogenase (G6PD) deficiency. To the best of our knowledge, the co-occurrence of these three distinct variants in a patient with DEB-Pr has not been previously reported in the literature. Oral upadacitinib (initiated at 15\u202fmg once daily) induced rapid and substantial relief of pruritus as well as improvement of cutaneous lesions. Clinical symptoms continued to improve during subsequent gradual dose tapering, and maintenance therapy with 15\u202fmg once weekly has been administered since month 16 of treatment, with a 7-month follow-up to date. No treatment-related adverse events were observed throughout the entire 22-month follow-up period. This case suggests that Janus kinase (JAK) inhibitors may represent a feasible therapeutic option for patients with similar refractory DEB-Pr.\n                  <\/jats:p>","DOI":"10.3389\/fmed.2026.1805186","type":"journal-article","created":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T05:54:35Z","timestamp":1778219675000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Successful treatment of dystrophic epidermolysis bullosa pruriginosa with upadacitinib in a patient with COL7A1, CARD14, and G6PD gene mutations"],"prefix":"10.3389","volume":"13","author":[{"given":"Hao","family":"Li","sequence":"first","affiliation":[{"name":"Department of Dermatology, The University of Hong Kong\u2013Shenzhen Hospital","place":["Shenzhen, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The University of Hong Kong\u2013Shenzhen Hospital","place":["Shenzhen, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuewen","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The University of Hong Kong\u2013Shenzhen Hospital","place":["Shenzhen, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianmeng","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The University of Hong Kong\u2013Shenzhen Hospital","place":["Shenzhen, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The University of Hong Kong\u2013Shenzhen Hospital","place":["Shenzhen, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The University of Hong Kong\u2013Shenzhen Hospital","place":["Shenzhen, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1111\/j.1365-2133.1994.tb13109.x","article-title":"Epidermolysis bullosa Pruriginosa: dystrophic epidermolysis bullosa with distinctive Clinicopathological features","volume":"130","author":"McGrath","year":"1994","journal-title":"Br J Dermatol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"T184","DOI":"10.1016\/j.ad.2023.11.010","article-title":"Successful control of recalcitrant pruritus in epidermolysis bullosa Pruriginosa with Dupilumab","volume":"115","author":"Roque Quintana","year":"2024","journal-title":"Actas Dermosifiliogr"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a 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Dermatol"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"e445","DOI":"10.1002\/ski2.445","article-title":"Real-world experience of using Dupilumab and Jak inhibitors to manage pruritus in epidermolysis bullosa Pruriginosa","volume":"4","author":"Hou","year":"2024","journal-title":"Skin health and disease"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1111\/jdv.17671","article-title":"Dystrophic epidermolysis bullosa Pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity","volume":"36","author":"Darbord","year":"2022","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1111\/1346-8138.17079","article-title":"Efficacy of Oral Jak1 or Jak1\/2 inhibitor for treating refractory pruritus in dystrophic epidermolysis bullosa: a retrospective case series","volume":"51","author":"Kwon","year":"2024","journal-title":"J Dermatol"}],"container-title":["Frontiers in 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