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Case Report: Successful treatment of dystrophic epidermolysis bullosa pruriginosa with upadacitinib in a patient with COL7A1, CARD14, and G6PD gene mutations

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 histor...

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Principais autores: Hao Li, Yu Zhang, Xuewen Lin, Tianmeng Yan, Xiaoyan Wu, Zhenying Zhang
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2026-05-01
Serier:Frontiers in Medicine
Fag:
CARD14
case report
COL7A1
dystrophic epidermolysis bullosa pruriginosa
G6PD
genetic variant
Online adgang:https://www.frontiersin.org/articles/10.3389/fmed.2026.1805186/full
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