# Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant

**Authors:** Sushantika Sushantika, Jyoti Sethi

PMC · DOI: 10.7759/cureus.100465 · Cureus · 2025-12-31

## TL;DR

This paper presents a case of inherited acrodermatitis enteropathica in an infant, successfully treated with zinc supplementation.

## Contribution

The contribution is a case report highlighting the successful management of a rare genetic zinc deficiency disorder in an infant.

## Key findings

- Inherited acrodermatitis enteropathica was diagnosed in an infant through clinical signs and zinc level measurements.
- Zinc supplementation effectively managed the condition and resolved symptoms.
- The disorder is caused by a defect in the SLC39A4 gene, impairing zinc absorption.

## Abstract

Acrodermatitis enteropathica (AE) is a clinical disorder that manifests due to severe zinc deficiency, which can be either genetic or acquired. The acquired form has been reported in patients with poor dietary intake, alcoholism, chronic liver disease, malabsorption syndrome, sickle cell anemia, or chronic renal failure, which usually presents at a later stage in life and has similar clinical features to the inherited defect.

On the other hand, the genetic form is an autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea caused by a defect in the SLC39A4 gene located on human chromosome 8, band 8q24.3, which impairs zinc absorption in the small intestine. Zinc is necessary for the functioning of many regulatory genes and enzymes; its deficiency presents with diverse manifestations in childhood, most commonly. Genetic testing is usually not available in many places, so the diagnosis is made clinically, along with measurement of zinc levels in serum or hair, and replenishing with supplements as soon as possible.

This case report also depicts a case of inherited acrodermatitis enteropathica in an infant, which was managed successfully with zinc supplementation.

## Linked entities

- **Genes:** SLC39A4 (solute carrier family 39 member 4) [NCBI Gene 55630]
- **Chemicals:** zinc (PubChem CID 23994)
- **Diseases:** acrodermatitis enteropathica (MONDO:0008713), sickle cell anemia (MONDO:0011382), malabsorption syndrome (MONDO:0020598), chronic renal failure (MONDO:0024327)

## Full-text entities

- **Genes:** SLC39A4 (solute carrier family 39 member 4) [NCBI Gene 55630] {aka AEZ, AWMS2, ZIP4}
- **Diseases:** zinc deficiency (MESH:C564286), periorificial dermatitis (MESH:D003872), alcoholism (MESH:D000437), autosomal recessive disorder (MESH:D030342), malabsorption syndrome (MESH:D008286), chronic liver disease (MESH:D008107), alopecia (MESH:D000505), AE (MESH:C538178), diarrhea (MESH:D003967), chronic renal failure (MESH:D007676), sickle cell anemia (MESH:D000755)
- **Chemicals:** Zinc (MESH:D015032)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12856505/full.md

## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC12856505/full.md

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Source: https://tomesphere.com/paper/PMC12856505