Acrodermatitis Enteropathica 

  • Author: Kristina Marie Dela Rosa, MD; Chief Editor: William D James, MD   more...
 
Updated: Aug 5, 2011
 

Background

Acrodermatitis enteropathica is a rare inherited form of zinc deficiency, characterized by periorificial and acral dermatitis, alopecia, and diarrhea.

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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 jejunum[7, 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.

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Epidemiology

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]

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Contributor Information and Disclosures
Author

Kristina Marie Dela Rosa, MD  Flight Surgeon, Commander Naval Air Forces, NAS North Island

Kristina Marie Dela Rosa, MD is a member of the following medical societies: American College of Physicians and American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Elizabeth Kline Satter, MD, MPH  Chairman, Department of Dermatology, Naval Medical Center San Diego

Elizabeth Kline Satter, MD, MPH is a member of the following medical societies: Alpha Omega Alpha and American Medical Women's Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Eleanor E Sahn, MD  Director, Division of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Medical University of South Carolina

Eleanor E Sahn, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Southern Medical Association

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Edward F Chan, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Timothy G. Woodall, MD, to the development and writing of this article.

References

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  27. Institute of Medicine, Food and Nutrition Board. Dietary Reference Intakes for Vitamin A, Vitamin K, Arsenic, Boron, Chromium, Copper, Iodine, Iron, Manganesse, Molybdenum, Nickel, Silicon, Vanadium, and Zinc. Available at http://ods.od.nih.gov/FactSheets/Zinc.asp#h3.. Accessed 9/9/09.

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Sharply demarcated, brightly erythematous periorificial plaque in an infant with acrodermatitis enteropathica.
 
 
 
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