Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review

Acrodermatitis enteropathic (AE) is a rare autosomal recessive disorder caused by zinc deficiency, presenting with dermatitis, alopecia, and diarrhea. The SLC39A4 gene, responsible for zinc transport, is often implicated, though only 50% of patients show genetic alterations. This report detailed an infant with mild, incomplete AE symptoms and a novel SLC39A4 mutation. Zinc replacement therapy rapidly improved the skin lesions. The case underscored the importance of considering AE and conducting genetic tests even in atypical presentations, and it called for further research to better correlate genotype with phenotype in AE.