Acrodermatitis Enteropathica in a Child in Bahrain: A Case Report and Literature Review

Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder caused by a mutation in the zinc transporter gene, leading to impaired zinc absorption. A triad of periorificial dermatitis, alopecia, and diarrhea is the characteristic clinical presentation, although symptoms may vary with age. This disease typically manifests during infancy, particularly during the weaning process. The diagnosis can be confirmed through a thorough history, clinical findings, and laboratory investigations, mainly plasma zinc level assessment with or without genetic testing. Lifelong zinc supplementation is the standard treatment. This case report describes a 19-month-old Yemeni girl residing in Bahrain who was diagnosed with AE. The patient's main presentation was periorificial dermatitis involving the eyes, nose, mouth, ears, nape, and more extensively around the diaper area. The diagnosis was confirmed by clinical exome sequencing, which demonstrated a homozygous missense variant in exon 3 of the solute carrier family 39 member 4 (SLC39A4) gene. Accordingly, zinc replacement therapy was started, resulting in an improvement in the patient's condition. This case report highlights the clinical characteristics and genetic features of this disease.