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

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.

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Journal
Cureus
Published
2025-12-31
DOI
https://doi.org/10.7759/cureus.100465
Primary Topic
Trace Elements in Health
Type
article
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article

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

Sushantika Sushantika, Jyoti Sethi
Cureus
Trace Elements in Health
article

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

Sushantika Sushantika, Jyoti Sethi
article en

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.

CureusVol. 17(12)
Seema Dental College and Hospital (IN), All India Institute of Medical Sciences Rishikesh (IN)
Zero hunger
Openalex Percentile: Top 34%
Trace Elements in Health
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