The New England Journal of MedicineImages in Clinical Medicine: Acrodermatitis Enteropathica

A 9-year-old boy, who had been on a constant dose of oral zinc supplementation since 6 months of age, presented with a year-long history of rash and recent episodes of abdominal pain and diarrhea. The diagnosis of acrodermatitis enteropathica, an autosomal recessive disorder of zinc deficiency, was confirmed through genetic testing and clinical presentation.

Key Points

• The patient had been receiving the same dose of zinc supplementation since 6 months of age due to lack of access to care during the COVID-19 pandemic.
• Physical examination revealed the patient’s height was below the fifth percentile for age and he had erythematous, scaly, clearly demarcated psoriasiform plaques on various parts of his body.
• Laboratory tests showed a fasting serum zinc level of 386 μg per deciliter (59 μmol per liter) and a low alkaline phosphatase level.
• Genetic testing identified a pathogenic variant and a variant of uncertain significance in SLC39A4, a gene that encodes a zinc transporter protein.
• After adjusting the dose of elemental zinc for the patient’s body weight, his symptoms abated within 2 weeks.

HCN Medical Memo
Zinc deficiency is one of the most prevalent nutritional problems, affecting nearly 25% of the global population.

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