Inherited Acrodermatitis Enteropathica

    Neerja Saraswat, Sushil Kumar, Souvik Nandy
    Studysummary This case report describes a 7-month-old girl diagnosed with acrodermatitis enteropathica, linked to low zinc levels, whose skin lesions improved significantly after zinc supplementation.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    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.
    Discuss this study in the Community →