Abstract
Introduction: Acrodermatitis Enteropathica (AE) is a rare genetic disorder that results in impaired zinc absorption due to a mutation in the SLC39A4 gene, leading to systemic zinc deficiency with characteristic dermatologic, immunologic, and gastrointestinal manifestations. Case Presentation: This case report presents a 6-year-old boy with recurrent AE, exhibiting widespread vesiculopustular lesions, alopecia, chronic diarrhea, and poor growth, symptoms typical of zinc deficiency syndromes. Initial diagnosis was supported by low serum zinc levels, elevated C-reactive protein, and IgE, indicating an inflammatory process. Despite the absence of genetic confirmation, the clinical and laboratory findings were consistent with AE. Treatment with oral zinc supplementation resulted in rapid symptomatic improvement, underscoring the essential role of zinc in skin integrity and immune function. Conclusion: This case highlights AE’s diagnostic challenges, especially in resource-limited settings lacking access to genetic testing, and the critical need for long-term zinc monitoring to manage recurrent symptoms and prevent toxicity. AE’s rare incidence and overlapping symptoms with other dermatologic and metabolic disorders necessitate a high degree of clinical suspicion, emphasizing the importance of zinc in pediatric growth and immune health. This report contributes valuable insights for managing recurrent AE presentations, particularly in contexts with limited diagnostic resources.
