What is the pathophysiology of acrodermatitis enteropathica?

Updated: Aug 21, 2019
  • Author: Kristina Marie Dela Rosa, MD; Chief Editor: William D James, MD  more...
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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 occurring 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, 7] This protein is highly expressed in the enterocytes in the duodenum and jejunum [8, 9] ; 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. [10]

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. [11] Acrodermatitis enteropathica can only be accurately diagnosed after attempts to remove zinc supplementation have failed. [12] Importantly, transient acquired zinc deficiencies can occur in premature infants secondary to their greater physiological demand for zinc and lower body stores. [13, 14] 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, 15] Thus, not all infants who have an acrodermatitis enteropathica–like presentation have the genetic disorder. In 2018, a case was also reported of acrodermatitis enteropathica due to total parenteral nutrition devoid of zinc as there was a recent shortage; the condition resolved upon addition of zinc into the total parenteral nutrition. [16]

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