Acrodermatitis Enteropathica
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Acrodermatitis enteropathica is a rare inherited form of zinc deficiency, characterized by periorificial and acral dermatitis, alopecia, and diarrhea.
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, 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]
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. [17] However, a case was reported of a patient with a new mutation of SLC39A4 who had normal zinc levels and a milder phenotype. [18]
United States
The frequency of acrodermatitis enteropathica is unknown.
International
An estimated 1 in 500,000 people in Denmark are affected by acrodermatitis enteropathica. [19]
Acrodermatitis enteropathica has no racial predilection.
Acrodermatitis enteropathica has no sexual predilection.
Acrodermatitis enteropathica typically appears in the first few weeks after birth if the child is fed bovine milk or shortly after cessation of breastfeeding. [9] Acrodermatitis enteropathica can occur in children who are still breastfeeding if the levels of zinc are low in the breast milk. [20]
With zinc supplementation, the response rate is 100%; however, 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.
In the future, genetic counseling with genetic testing may be available for siblings at risk for acrodermatitis enteropathica.
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Kristina Marie Dela Rosa, MD Dermatologist, Insight Dermatology, San Diego, CA
Kristina Marie Dela Rosa, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association
Disclosure: Nothing to disclose.
Elizabeth K Satter, MD, MPH Dermatologist and Dermatopathologist
Elizabeth K Satter, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Medical Womens Association
Disclosure: Nothing to disclose.
Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology
Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, 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, Society for Investigative Dermatology
Disclosure: Nothing to disclose.
William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine
William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology
Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD.
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, Southern Medical Association
Disclosure: Nothing to disclose.
Timothy G Woodall, MD Dermatology, Carolinas Medical Center – Pineville
Timothy G Woodall, MD is a member of the following medical societies: American Academy of Dermatology, American Society for Dermatologic Surgery, South Carolina Medical Association
Disclosure: Nothing to disclose.
The view(s) expressed herein are those of the authors and do not reflect the official policy or position of Naval Special Warfare Center, the U.S. Navy Medical Department, the U.S. Navy Office of the Surgeon General, the Department of the Navy, Department of Defense, or the U.S. Government.
Acrodermatitis Enteropathica
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