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

## TL;DR

A 19-month-old girl in Bahrain was diagnosed with acrodermatitis enteropathica, a rare genetic disorder affecting zinc absorption, through genetic testing and showed improvement with zinc therapy.

## Contribution

This case report adds a new clinical and genetic confirmation of AE in a Yemeni child in Bahrain using exome sequencing.

## Key findings

- The patient presented with periorificial dermatitis and was diagnosed with AE via clinical exome sequencing.
- A homozygous missense variant in the SLC39A4 gene was identified as the cause of AE in this case.
- Zinc replacement therapy led to clinical improvement in the patient.

## Abstract

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.