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Case Reports

Abstract

Advances in medicine have introduced novel therapeutic mechanisms for treating complex diseases. However, with the development of new targeted agents, unforeseen side effects can emerge. We present the case of a 13-year-old boy with a history of Duchenne muscular dystrophy receiving golodirsen therapy who developed a 3-week history of pruritic blisters on the feet, hands, back, buttocks, and earlobes. Initial treatment with topical corticosteroids and oral prednisone provided minimal relief. Punch biopsies of the upper thigh were performed. Fungal cultures were negative. Histopathology revealed a subepidermal blister with a mixed inflammatory infiltrate on H&E staining. Direct immunofluorescence demonstrated linear deposition of IgG and C3 along the basement membrane zone. Serologic testing showed elevated BPAG1 and BPAG2 antibodies at 13 and >200, respectively. Golodirsen was discontinued, and the patient was subsequently started on dupilumab with clinical improvement. Commonly implicated triggers of drug-induced bullous pemphigoid include antibiotics, diuretics, ACE inhibitors, NSAIDs, and immune checkpoint inhibitors. Discontinuation of the offending agent is typically followed by resolution of symptoms. To our knowledge, this represents the first reported case of bullous pemphigoid associated with golodirsen therapy. Clinicians should be aware of the potential for rare autoimmune reactions in pediatric patients receiving exon-skipping therapies.