Acrodermatitis Enteropathica - Symptoms, Causes & Treatment
Medically reviewed by Dr. Anand S. Urhekar, MD, MD Pathology, Clinical Advisor · Last updated July 2026
A disorder of zinc deficiency — inherited through defective zinc absorption or acquired through inadequate intake — producing a characteristic triad of rash around the mouth and anogenital area, diarrhoea and hair loss. It typically presents in infancy around weaning and responds rapidly to zinc supplementation.
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Quick Answer
Acrodermatitis enteropathica is caused by zinc deficiency and classically presents in infancy with a triad of scaly, crusted rash around the mouth and nappy area, diarrhoea and hair loss, plus irritability and poor growth. The inherited form is due to a SLC39A4 mutation affecting zinc absorption. Diagnosis is by low serum zinc and alkaline phosphatase; lifelong oral zinc supplementation produces dramatic improvement within days.
Symptoms
- Sharply defined scaly, crusted or blistered plaques around the mouth, eyes and nappy area
- Diarrhoea
- Hair loss including eyebrows and eyelashes
- Irritability, poor appetite and failure to thrive
- Nail changes and recurrent infections
Causes & Risk Factors
- Inherited SLC39A4 mutation impairing intestinal zinc absorption
- Acquired deficiency from poor intake, malabsorption, or prolonged parenteral nutrition without zinc
- Exclusively breastfed preterm infants with low milk zinc
- Alcohol use disorder and inflammatory bowel disease in adults
Treatment & Management
- Oral zinc supplementation — lifelong in the inherited form
- Investigating and treating the cause in acquired deficiency
- Monitoring serum zinc and copper levels during treatment
- Nutritional and dietetic input
- Topical care of eroded skin and treatment of secondary infection
When to See a Doctor
See a doctor urgently about a persistent rash around an infant's mouth and nappy area with diarrhoea, hair loss or poor weight gain. Serum zinc testing is simple and treatment is transformative.
Frequently Asked Questions
How quickly does zinc treatment work?
Remarkably fast. Irritability and diarrhoea often improve within one to two days, and the rash clears substantially within one to two weeks of adequate supplementation.
Is it always genetic?
No. An identical picture occurs from acquired zinc deficiency — malabsorption, restricted diets, alcohol use disorder or zinc-free parenteral nutrition — which is treated by correcting the underlying cause plus supplementation.
Medical References
Information on this page is sourced from and verified against reputable medical resources:
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Medical Disclaimer: This information is for educational purposes only and is not intended as medical advice. The content on this page should not be used to diagnose or treat any health problem. Always consult with a qualified healthcare professional for proper medical evaluation, diagnosis, and treatment of your condition.