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Dermatology Online Journal

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Bullous acrodermatitis enteropathica: case report of a unique clinical presentation and review of the literature


Acrodermatitis enteropathica is a rare autosomal recessive disease characterized by pink scaly plaques and erosions in the periorificial and acral regions. A mutation in a gene responsible for zinc transport results in significant zinc deficiency in individuals lacking oral supplementation. We present a female infant with acrodermatitis enteropathica with crusting of the periorificial regions along with perineal plaques. A delay in diagnosis and treatment led to the development of pronounced painful acral bullae. Although plaques and erosions in the periorificial and acral regions are most commonly observed, bullae should also be considered in the spectrum of clinical manifestations of acrodermatitis enteropathica. The rare bullous variant of acrodermatitis enteropathica can be distinguished histologically.

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