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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

Summary

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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.

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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.