eMedicine Specialties > Dermatology > Metabolic Diseases
Acrodermatitis Enteropathica
Updated: Oct 30, 2009
Introduction
Background
Acrodermatitis enteropathica is a rare inherited form of zinc deficiency, characterized by periorificial and acral dermatitis, alopecia, and diarrhea.
Pathophysiology
Zinc is an essential trace nutrient required for the proper function of more than 100 enzymes and plays a crucial role in nucleic acid metabolism.1,2
Acrodermatitis enteropathica is an autosomal recessive disorder postulated to occur as a result of mutations in the SLC39A4 gene located on band 8q24.3.3,4,5 The SLC39A4 gene encodes a transmembrane protein that is part of the zinc/iron-regulated transporter–like protein (ZIP) family required for zinc uptake.6 This protein is highly expressed in the enterocytes in the duodenum and jejunum7,8 ; therefore, affected individuals have a decreased ability to absorb zinc from dietary sources. Absence of a binding ligand needed to transport zinc may further contribute to zinc malabsorption.9
Differentiating acquired zinc deficiency disorders from acrodermatitis enteropathica is difficult because they have similar clinical presentations. Acquired zinc deficiency can occur as a result of low nutritional intake, malabsorption, excessive loss of zinc, or a combination of these factors.10 Acrodermatitis enteropathica can only be accurately diagnosed after attempts to remove zinc supplementation have failed.11 Importantly, transient acquired zinc deficiencies can occur in premature infants secondary to their greater physiological demand for zinc and lower body stores.12,13 Additionally, zinc deficiency can present in full-term breastfed infants as a result of low maternal serum zinc levels or a defect in mammary zinc secretion.1 Thus, not all infants who have an acrodermatitis enteropathica–like presentation have the genetic disorder. Also see the Pediatrics article Acrodermatitis Enteropathica.
Frequency
United States
The frequency of acrodermatitis enteropathica is unknown.
International
An estimated 1 in 500,000 people in Denmark are affected by acrodermatitis enteropathica.14
Mortality/Morbidity
Without appropriate zinc supplementation, acrodermatitis enteropathica usually is lethal within the first few years of life. Untreated infants exhibit severe growth retardation, dermatitis, alopecia, secondary bacterial and fungal infections, and neurologic and behavioral changes; however, all symptoms are reversible with therapy.
Race
Acrodermatitis enteropathica has no racial predilection.
Sex
Acrodermatitis enteropathica has no sexual predilection.
Age
Acrodermatitis enteropathica typically appears in the first few weeks after birth if the child is fed bovine milk or shortly after cessation of breastfeeding.8 Acrodermatitis enteropathica can occur in children who are still breastfeeding if the levels of zinc are low in the breast milk.15
Clinical
History
Patients have a history of refractory diarrhea, failure to thrive, irritability, dermatitis, and alopecia that gradually appeared shortly after weaning from breast milk. Occasionally, patients have a history of siblings or other family members with similar symptoms in infancy.1
Physical
- General: Infants are typically irritable and often inconsolable, and they show a slowing or cessation of growth and development.
- Skin: Erythematous, dry, and scaly patches and plaques are present and may evolve into crusted, vesiculobullous, erosive, psoriasiform, and pustular lesions. Lesions are predominantly distributed in a periorificial and acral pattern and may become secondarily infected with Staphylococcus aureus or Candida albicans.
- Mucosa: Findings include angular cheilitis, glossitis, conjunctivitis, blepharitis, punctate keratopathy, and photophobia.
- Nails: Paronychia and nail dystrophy are typical.
- Hair: Patients have loss of scalp hair, eyebrows, and eyelashes.
Sharply demarcated, brightly erythematous periorificial plaque in an infant with acrodermatitis enteropathica.
Causes
The etiopathogenesis of the zinc deficiency is postulated to occur as a result of a mutation in a zinc transport protein encoded by the SLC39A4 gene and perhaps alteration in a zinc transport ligand.16
More on Acrodermatitis Enteropathica |
 Overview: Acrodermatitis Enteropathica |
| Differential Diagnoses & Workup: Acrodermatitis Enteropathica |
| Treatment & Medication: Acrodermatitis Enteropathica |
| Follow-up: Acrodermatitis Enteropathica |
| Multimedia: Acrodermatitis Enteropathica |
| References |
| Next Page » |
References
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Further Reading
Keywords
acrodermatitis enteropathica, AE, zinc deficiency, congenital zinc deficiency
