INTRODUCTION
Dystrophic epidermolysis bullosa (DEB), caused by mutations in COL7A1 is characterized by the development of blisters, bullae, and erosions following minor trauma to the skin and mucous membranes, with healing typically resulting in atrophic scarring and associated nail dystrophy.1,2 However, no cure for DEB is available; therefore, the clinical care and quality of life of patients need considerable improvement. Currently, JAK inhibitors are being increasingly utilized in the management of noncanonical indications, demonstrating promising clinical efficacy across diverse disease contexts. Here, we report that JAK1 inhibitor abrocitinib may be an effective therapeutic strategy for DEB, supported by case evidence.
CASE PRESENTATION
The first case was a 39-year-old male proband with DEB who initially presented with localized erythema and blisters during adolescence. Subsequently, the rash spread to the trunk and extremities with obvious itching. The proband's mother, grandmother, and aunt manifested similar clinical manifestations. Clinical examination revealed diffuse erythema with papules and nodules distributed across the trunk and extremities, accompanied by scattered hemorrhagic crusts, scales, and hypertrophic scar tissue formation (Figure 1A, B). Genetic testing of the proband and his mother revealed a heterozygous missense variant in COL7A1: c.5099G>T (p.Gly1700Val). The patient had previously undergone treatment with oral antihistamines (eg, ebastine, cetirizine, and loratadine), corticosteroids, and cyclosporine, yet the clinical efficacy was unsatisfactory. Due to significant pruritus, the patient was initiated on oral abrocitinib (Pfizer, New York, USA) at a dosage of 100 mg daily. One week later, the symptoms exhibited no significant improvement. Based on prescribing recommendations, the dosage of abrocitinib was increased to 200 mg orally per day. After only one month of treatment, a significant reduction in pruritus and inflammation was observed; the rash improved, and blood crusts sloughed off (Figure 1C, D). The Visual Analog Scale score for pruritus decreased from 8 to 1. The patient reported significant improvements in pruritus and sleep quality. After 3 months, complete resolution of diffuse erythema was achieved with flattening of the rash, although some dark-brown hyperpigmentation and scars remained (Figure 1E, F). During the six-month follow-up period, routine examinations of blood and urine, liver and kidney function, electrolytes, and coagulation parameters were performed periodically, with no abnormalities detected and no adverse drug reactions reported.
