Pretibial Dystrophic Epidermolysis Bullosa Successfully Treated with Upadacitinib: A Case Report

Pretibial dystrophic epidermolysis bullosa (PDEB) is a rare subtype of dystrophic epidermolysis bullosa caused by mutations in the gene encoding type VII collagen, and is characterized by intensely itchy papular, plaque and bullous lesions on the shin area. Herein, we report a 58-year-old man with recessive PDEB, successfully treated with upadacitinib 30 mg daily, a selective JAK1 inhibitor. The patient presented multiple tense bullae, purplish-red papular-nodular lesions, and severe pruritus (VAS 10/10). Previous treatments, including clobetasol and tacrolimus cream, prednisone, cyclosporine and dupilumab, were only minimally effective. After one month, significant clinical improvement was observed with minimal lesions and substantial pruritus reduction (VAS 0/10). No drug-related side effects or laboratory abnormalities were noticed. Upon drug discontinuation, the disease recurred in few days; nevertheless reintroducing upadacitinib 30 mg daily resulted in similar clinical benefits. Further studies are needed to assess whether JAK inhibitors may offer effective symptomatic relief for PDEB patients.