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Acrodermatitis enteropathica (Children)
🌿 Acrodermatitis enteropathica is a rare inherited disorder caused by zinc malabsorption. It presents with chronic diarrhoea, a characteristic inflammatory rash around the mouth/anus, and alopecia.
📖 About
- Autosomal recessive condition due to impaired intestinal zinc absorption
- Defect in zinc transporter protein (ZIP4)
⚙️ Aetiology
- Mutations in SLC39A4 gene → defective ZIP4 transporter
- Human breast milk zinc is more bioavailable than cow’s milk or formula
- Symptoms often appear after weaning from breast milk
🩺 Clinical Features
- Psoriasis-like dermatitis around eyes, nose, mouth, buttocks, and perineum
- Acral involvement (hands/feet)
- Alopecia and nail changes
- Recurrent infections due to immunocompromise
- Presentation: bottle-fed infants within days/weeks of birth; breast-fed infants soon after weaning
🔍 Investigations
- FBC → anaemia
- Low serum/plasma zinc levels (normal: 10.7–23.0 μmol/L)
- Reduced urinary zinc excretion
- Skin biopsy may show characteristic features
💊 Management
- Oral zinc sulfate 30–150 mg/day → rapid remission within days
- Treat secondary bacterial/fungal infections appropriately
📚 References
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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