[Acrodermatitis enteropathica: a treatable disease today]

Area of Science:

• Pediatric Endocrinology
• Dermatology
• Nutritional Science

Background:

• Acrodermatitis enteropathica is a rare genetic or acquired disorder of zinc malabsorption.
• Early diagnosis and intervention are crucial for managing Acrodermatitis enteropathica.
• This case highlights a presentation without gastrointestinal symptoms.

Observation:

• A 13-month-old girl presented with clinical features consistent with Acrodermatitis enteropathica.
• The patient exhibited characteristic skin lesions but no gastrointestinal issues.
• Pre-treatment serum zinc levels were significantly low.

Findings:

• Zincaspartat supplementation led to marked clinical improvement.
• Post-treatment serum zinc levels normalized.
• The therapeutic response confirmed the diagnosis of zinc deficiency.

Implications:

• This case underscores the importance of considering Acrodermatitis enteropathica in infants with characteristic skin findings, even without GI symptoms.
• Prompt zinc replacement therapy is effective in reversing clinical manifestations.
• Understanding the varied presentations of Acrodermatitis enteropathica aids in timely diagnosis and management.