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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

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Published on: September 20, 2018

Acrodermatitis Enteropathica: A Case Report.

Nicolai Nistor¹, Lavinia Ciontu, Otilia-Elena Frasinariu

¹From the Pediatrics Department (NN, O-EF, VVL, AI, VS), "Gr. T. Popa" University of Medicine and Pharmacy; and "St Mary" Children Emergency Hospital (LC), Iasi, Romania.

|May 20, 2016

Summary

A rare genetic disorder, acrodermatitis enteropathica, presents with skin lesions and diarrhea due to zinc deficiency. Prompt zinc therapy can significantly improve symptoms and skin health.

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Area of Science:

Genetics
Dermatology
Pediatrics

Background:

Acrodermatitis enteropathica is a rare autosomal recessive genetic disorder.
It is caused by mutations in the gene responsible for zinc transport.
The condition is characterized by periorificial dermatitis, alopecia, and diarrhea.

Observation:

A 14-month-old boy presented with erythematous, scaly, pustular skin lesions and facial lesions.
Numerous bacterial skin superinfections, including Staphylococcus aureus abscesses, complicated the clinical presentation.
Abscesses led to delayed diagnosis of acrodermatitis enteropathica.

Findings:

Low plasma zinc values confirmed the diagnosis.
Zinc therapy led to rapid and significant improvement in skin lesions.
Skin lesions almost disappeared within two months of treatment.

Implications:

Bacterial superinfections and abscesses can mask or delay the diagnosis of acrodermatitis enteropathica.
Early diagnosis and zinc supplementation are crucial for favorable outcomes.
This case highlights the importance of considering acrodermatitis enteropathica in infants with severe dermatitis and superimposed infections.