Abstract

Introduction: Epidermolysis Bullosa, Generalized-Severe (EBS-gen sev) is a rare genodermatosis, resulting from multiple gene mutations, characterized by marked mechanical skin fragility. It presents at birth with disseminated friction-induced blistering. Erosions heal without scarring and lesions tend to improve with age.

Case Summary: A 1-year old Filipino female presented at birth with red bumps and blisters on the distal extremities, which later spread during infancy. No history of trauma or viral infection noted. Hyperkeratosis of the palms and soles, and nail thickening developed. Skin punch biopsy revealed Subepidermal Vesicobullous Dermatitis, inflammatory, predominantly eosinophilic, supporting the diagnosis Infantile Bullous Pemphigoid. Direct immunofluorescence was negative, pointing to Epidermolysis Bullosa. Genetic Mutation Testing was done in Israel, with pending results. The patient was treated symptomatically. During follow-ups, the child continued to have blister formation but was otherwise healthy.

Conclusion: EBS-gen sev is a rare inherited disorder, with no targeted therapy, and is thus an active area of investigation.

Citation

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Keywords

Epidermolysis bullosa simplex, Generalized severe, Bullous eruption, Genodermatosis