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Acrodermatitis enteropathica

Emanual Maverakis1, Peter J Lynch, Nasim Fazel

  • 1University of California, Davis Department of Dermatology, USA.

Dermatology Online Journal
|March 11, 2008
PubMed

Insights

Acrodermatitis enteropathica, a rare genetic disorder, causes skin issues due to zinc deficiency. Early diagnosis and zinc replacement therapy are crucial for effective treatment and symptom resolution.

Area of Science:

  • Pediatric Dermatology
  • Medical Genetics
  • Nutritional Science

Background:

  • Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder.
  • It is characterized by zinc malabsorption, leading to various dermatological and systemic symptoms.
  • Genetic mutations in the SLC39A4 gene, encoding the zinc transporter ZIP4, are a primary cause of AE.

Observation:

  • A 13-year-old girl presented with widespread red, scaly plaques since infancy.
  • Skin biopsy showed psoriasiform hyperplasia and epidermal pallor.
  • Her serum zinc level was significantly low (36 mug/dl).

Findings:

  • The patient was diagnosed with acrodermatitis enteropathica based on clinical presentation and low zinc levels.
  • Zinc replacement therapy led to a significant improvement in her skin condition.
  • The underlying cause was linked to mutations in the zinc transporter ZIP4 (SLC39A4).

Implications:

  • This case highlights the importance of considering AE in infants with persistent skin issues.
  • Timely zinc supplementation can effectively manage AE, improving patient outcomes.
  • Understanding the genetic basis of AE aids in diagnosis and potential future therapies.

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