Inherited Acrodermatitis Enteropathica

A 7-month-old girl was diagnosed with inherited acrodermatitis enteropathica (ADE), an autosomal recessive disorder caused by a mutation in the SLC39A4 gene affecting zinc absorption. She presented with diarrhea, erythematous scaly lesions, and patches of alopecia. Her condition was confirmed by a low serum zinc level of 0.42 µg/mL. ADE is characterized by mucocutaneous lesions and hair abnormalities, often manifesting during weaning due to reduced zinc absorption from non-breast milk sources. Treatment with zinc supplementation (2 mg/kg/day) led to significant improvement in 4 weeks.