Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation

This case report details a 9-year-old girl with acrodermatitis enteropathica (AE), a rare genetic disorder due to zinc deficiency, marked by dermatitis and alopecia. The patient had recurrent rashes and hair loss since infancy, which improved with zinc supplementation but recurred when treatment stopped. Genetic testing identified a novel compound heterozygous mutation in the SLC39A4 gene, with a frameshift mutation (c.1466dupT) from her father and a missense mutation (c.295G > A) from her mother. This finding enhances the understanding of AE's genetic basis and emphasizes the critical role of zinc supplementation in managing the condition.