Atypical Presentation of Acrodermatitis Enteropathica in a Child: Later Onset with Life-Threatening Severe Extensive Dermatitis and Septic Shock

This case report details an 8-year-old boy with Acrodermatitis enteropathica (AE), a rare genetic disorder affecting zinc absorption, who experienced severe dermatitis and septic shock. Genetic testing revealed a frameshift deletion in the SLC39A4 gene. Treatment with zinc supplements (3 mg/kg/day) resulted in healing of skin lesions, hair regrowth, and improved weight and social engagement. The report underscores the importance of considering AE in patients with mucocutaneous erosive lesions, especially in a periorificial pattern, as timely treatment is crucial to prevent severe complications like sepsis and septic shock.