Exploring Zinc Metabolism Disorders: A Case Series of Acrodermatitis Enteropathica

Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder characterized by severe zinc deficiency due to impaired dietary absorption. This study presents a case series of four infants aged 5 weeks to 8 months who exhibited clinical features suggestive of AE after dietary changes, particularly following the introduction of formula or buffalo milk. All patients presented with well-defined erythematous plaques, predominantly on the buttocks, and experienced varying degrees of gastrointestinal symptoms like diarrhea. Notably, laboratory tests showed normal serum zinc levels in two cases, raising diagnostic challenges. Treatment involved initiating elemental zinc supplementation at 3 mg/kg/day, which led to rapid resolution of skin lesions and gastrointestinal symptoms within a week. Parents were educated on the chronic nature of the condition and the importance of adherence to therapy to prevent recurrence. One patient experienced a recurrence due to discontinuation of zinc, but symptoms improved promptly upon reinitiating treatment. The findings highlight the complexities in diagnosing AE, particularly given its overlap with other dermatological conditions. Accurate identification and timely management are crucial, as untreated AE can lead to significant complications, including growth retardation and recurrent infections. This case series emphasizes the need for heightened awareness of AE among clinicians, as well as the potential benefits of prompt zinc therapy in achieving favorable clinical outcomes in affected infants.