eMedicine Specialties > Dermatology > Metabolic Diseases

Acrodermatitis Enteropathica

Author: Timothy G Woodall, MD, Dermatology, Carolinas Medical Center - Pineville
Contributor Information and Disclosures

Updated: Feb 28, 2007

Introduction

Background

Acrodermatitis enteropathica (AE) is an autosomal recessive disorder characterized by periorificial and acral dermatitis, alopecia, and diarrhea.

Pathophysiology

The genetic mutation of SLC39A4 on 8q24.3 appears to be the cause.

AE can only be accurately diagnosed after attempts to remove zinc supplementation have failed. Therefore, patients with AE must remain on zinc supplementation for life. Differentiating AE from acquired zinc deficiencies can be difficult because both conditions present in the same manner. Some studies have shown that low zinc levels in the mother's milk may produce an acquired zinc deficiency in full-term, breastfed infants. Zimmerman et al has proposed that some acquired zinc deficiencies may be due to a defect in mammary zinc secretion. These studies tend to dispute the claim that human breast milk has a protective effect against zinc deficiency. Acquired zinc deficiency may also occur in premature infants, whether or not maternal zinc levels are low or normal, because of the infants' greater bodily demand or lower bodily stores of zinc.

Frequency

United States

The frequency is unknown.

International

An estimated 1 in 500,000 people in Denmark are affected.

Mortality/Morbidity

AE is lethal, usually within the first few years of life, if left untreated. However, Graves et al reported an untreated adult survivor.

Race

No racial predilection exists.

Sex

No sexual preference exists.

Age

AE appears in the first few months after birth or after cessation of breastfeeding.

Clinical

History

Symptoms of AE occur within the first few months after birth and tend to appear shortly after discontinuation of breastfeeding.

Physical

  • Physical examination is significant for erythematous patches and plaques of dry, scaly, eczematous skin that may evolve into crusted, vesiculobullous, erosive, and pustular lesions. Lesions are distributed in a periorificial and acral pattern on the face, the scalp, the hands, the feet, and the anogenital areas.
  • Paronychia as well as loss of scalp hair, eyebrows, and eyelashes may occur.
  • The lesions may become secondarily infected with Staphylococcus aureus and Candida albicans.
  • Infants may also experience withdrawal, photophobia, and loss of appetite.

Causes

The genetic defect appears to involve SLC39A4 on 8q24.3. The SLC39A4 gene appears to encode a transmembrane protein that serves as a zinc uptake protein. Symptoms of AE occur within the first few months after birth and tend to appear shortly after discontinuation of breastfeeding. This phenomenon has led many to believe that human milk has a beneficial ligand, which bovine milk lacks. Evans and Johnson postulated picolinate as the ligand; Lonnerdal et al suggested citric acid. Cousins and Smith proposed that the protein concentration of human milk affects zinc bioavailability. While the genetic defect has apparently been identified, the breastfeeding link has not clearly been established.

More on Acrodermatitis Enteropathica

Overview: Acrodermatitis Enteropathica
Differential Diagnoses & Workup: Acrodermatitis Enteropathica
Treatment & Medication: Acrodermatitis Enteropathica
Follow-up: Acrodermatitis Enteropathica
Multimedia: Acrodermatitis Enteropathica
References
[ CLOSE WINDOW ]

References

  1. Aggett PJ, Atherton DJ, More J, et al. Symptomatic zinc deficiency in a breast-fed preterm infant. Arch Dis Child. Jul 1980;55(7):547-50. [Medline].

  2. Bilinski DL, Ehrenkranz RA, Cooley-Jacobs J, McGuire J. Symptomatic zinc deficiency in a breast-fed, premature infant. Arch Dermatol. Sep 1987;123(9):1221-4. [Medline].

  3. Bye AM, Goodfellow A, Atherton DJ. Transient zinc deficiency in a full-term breast-fed infant of normal birth weight. Pediatr Dermatol. 2(4):308-11. [Medline].

  4. Champion RH, Burton JL, Ebling FJG, eds. Rook/Wilkinson/Ebling Textbook of Dermatology. Vol 3. London: Blackwell Science; 1998:. 2668.

  5. Connors TJ, Czarnecki DB, Haskett MI. Acquired zinc deficiency in a breast-fed premature infant. Arch Dermatol. Apr 1983;119(4):319-21. [Medline].

  6. Cousins RJ, Smith KT. Zinc-binding properties of bovine and human milk in vitro: influence ofchanges in zinc content. Am J Clin Nutr. May 1980;33(5):1083-7. [Medline].

  7. Elder D, Elenitsas R, Jaworsky C, Johnson B, eds. Lever's Histopathology of the Skin. 8th ed. Philadelphia: Lippincott-Raven;1998:356.

  8. Evans GW, Johnson PE. Characterization and quantitation of a zinc-binding ligand in human milk. Pediatr Res. Jul 1980;14(7):876-80. [Medline].

  9. Ford D. Intestinal and placental zinc transport pathways. Proc Nutr Soc. 2004;63(1):21-9. [Medline].

  10. Glover MT, Atherton DJ. Transient zinc deficiency in two full-term breast-fed siblings associated with low maternal breast milk zinc concentration. Pediatr Dermatol. Feb 1988;5(1):10-3. [Medline].

  11. Graves K, Kestenbaum T, Kalivas J. Hereditary acrodermatitis enteropathica in an adult. Arch Dermatol. May 1980;116(5):562-4. [Medline].

  12. Hambidge KM. The role of zinc and other trace metals in pediatric nutrition and health. Pediatr Clin North Am. Feb 1977;24(1):95-106. [Medline].

  13. Kury S, Dreno B, Bezieau s, et al. Identification of SCL39A4, a gene involved in acrodermatitis enteropathica. Nat Genet. 2002;31(3):230-40. [Medline].

  14. Lonnerdal B, Stanislowski AG, Hurley LS. Isolation of a low molecular weight zinc binding ligand from human milk. J Inorg Biochem. Jan 1980;12(1):71-8. [Medline].

  15. Martin DP, Tangsinmankong N, Sleasman JW, et al. Acrodermatitis enteropathica-like eruption and food allergy. Ann Allergy Asthma Immunol. Mar 2005;94(3):398-401. [Medline].

  16. Nakano A, Nakano H, Nomura K, et al. Novel SLC39A4 mutations in acrodermatitis enteropathica. J Invest Dermatol. 2003;120(6):963-6. [Medline].

  17. Niiyama S, Koelker S, Degen I, et al. Acrodermatitis acidemia secondary to malnutrition in glutaric aciduria type 1. Eur J Dermatol. 2001;11(3):244-6. [Medline].

  18. Puzenat E, Durbise E, Fromentin C, et al. Iatrogenic acrodermatitis enteropathica-like syndrome in leucinosis. Ann Dermatol Venereol. 2004;131(8-9):801-4. [Medline].

  19. Roberts LJ, Shadwick CF, Bergstresser PR. Zinc deficiency in two full-term breast-fed infants. J Am Acad Dermatol. Feb 1987;16(2 Pt 1):301-4. [Medline].

  20. Samady JA, Schwartz RA, Shih LY, et al. Acrodermatitis enteropathica-like eruption in an infant with nonketotic hyperglycinemia. J Dermatol. Sep 2000;27(9):604-8. [Medline].

  21. Schacner LA, Hansen RC. Pediatric Dermatology. New York, New York: Churchill Livingstone;1988:759.

  22. Schmidt CP, Tunnessen W. Cystic fibrosis presenting with periorificial dermatitis. J Am Acad Dermatol. Nov 1991;25(5 Pt 2):896-7. [Medline].

  23. Van Wouwe JP. Clinical and laboratory diagnosis of acrodermatitis enteropathica. Eur J Pediatr. Oct 1989;149(1):2-8. [Medline].

  24. Wang K, Zhou B, Kuo YM, et al. A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. Am J Hum Genet. 2002;71:66-73. [Medline].

  25. Weinberg S. Unusual Eruptions in the diaper area. Lectureship Series in Dermatology. 2005;14:15-19.

  26. Zimmerman AW, Hambidge KM, Lepow ML, et al. Acrodermatitis in breast-fed premature infants: evidence for a defect of mammary zinc secretion. Pediatrics. Feb 1982;69(2):176-83. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

AE, zinc deficiency

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

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, and South Carolina Medical Association
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
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.

Managing Editor

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.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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; american college of physicians Honoraria Other

RELATED MEDSCAPE ARTICLES
Articles
 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.