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 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