Pretibial Dystrophic Epidermolysis Bullosa Successfully Treated with Upadacitinib: A Case Report
Year: 2024
Type: article
Study design: Case Report
Abstract: 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 JAK-1 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.
Source: Annals of Case Reports
Authors: Romina Caushaj, Francesco Bellinato, Paolo Gisondi, Giampiero Girolomoni
Institution: University of Verona
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4402949437