Epidermolysis Bullosa With Concomitant Amelogenesis Imperfecta: Clinical and Oral Implications in a Pediatric Patient

Epidermolysis bullosa (EB) is a rare inherited mechanobullous disorder characterized by extreme fragility of the skin and mucous membranes, leading to blister formation following minimal trauma.Among its different subtypes, the junctional form is frequently associated with dental abnormalities, particularly defects in enamel formation.Amelogenesis imperfecta (AI) is a hereditary enamel disorder affecting both primary and permanent dentitions and may present as quantitative or qualitative enamel defects.The coexistence of EB and AI reflects a shared molecular basis involving mutations in genes essential for epithelial adhesion and enamel development.This article reports a case of AI associated with EB in a child and emphasizes, through a review of the literature, the genetic relationships underlying the link between these two conditions.