Skip to main content

Abstract

Presently, measurement of zinc levels in blood plasma or serum is the simplest and most common way of finding the body’s zinc status. However, infections, injuries, and other stress stimuli can alter blood zinc levels and confound the clinical picture when attempting to diagnose AE based on plasma zinc levels. The mechanism for the decreased serum zinc levels observed in the setting of inflammation has not been completely elucidated, but a recent discovery that interluekin-6 (IL-6) upregulates the expression of the ZIP14 zinc transporter in murine liver and may contribute to the hypozincemia seen in inflammatory states [1]. In addition, zinc is distributed to different parts of the body; as a result blood zinc levels cannot be accurately measured. Normal levels of zinc in blood plasma range between 70 and 110 μg/dL, while zinc levels in blood serum range from 80 to 120 μg/dL. Under normal conditions, zinc excretion through urine varies but urinary zinc excretion is significantly reduced in individuals with zinc deficiency [2]. Hair zinc levels are also decreased in patients with AE and it was proposed to detect heterozygous carriers of SLC39A4 mutations [3].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Liuzzi JP, et al. Interleukin-6 regulates the zinc transporter Zip14 in liver and contributes to the hypozincemia of the acute-phase response. Proc Natl Acad Sci U S A. 2005;102(19):6843–8.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  2. Van Wouwe JP. Clinical and laboratory diagnosis of acrodermatitis enteropathica. Eur J Pediatr. 1989;149(1):2–8.

    Article  PubMed  Google Scholar 

  3. Jamall IS, Ally KM, Yusuf S. Acrodermatitis enteropathica. Biol Trace Elem Res. 2006;114(1-3):93–105.

    Article  CAS  PubMed  Google Scholar 

  4. Maverakis E, et al. Acrodermatitis enteropathica and an overview of zinc metabolism. J Am Acad Dermatol. 2007;56(1):116–24.

    Article  PubMed  Google Scholar 

  5. King JC, et al. Daily variation in plasma zinc concentrations in women fed meals at six-hour intervals. J Nutr. 1994;124(4):508–16.

    CAS  PubMed  Google Scholar 

  6. Aggett PJ. Acrodermatitis enteropathica. J Inherit Metab Dis. 1983;6 Suppl 1:39–43.

    Article  PubMed  Google Scholar 

  7. Ishibashi Y, et al. Abnormalities of fecal flora in patients with acrodermatitis enteropathica. J Dermatol. 1985;12(3):219–25.

    Article  CAS  PubMed  Google Scholar 

  8. Werbach MR. Nutritional influences on illness. Tarzana: Third Line Press; 1993.

    Google Scholar 

  9. Capel ID, et al. The assessment of zinc status by the zinc tolerance test in various groups of patients. Clin Biochem. 1982;15(5):257–60.

    Article  CAS  PubMed  Google Scholar 

  10. Prasad A. Laboratory diagnosis of zinc deficiency. J Am Coll Nutr. 1985;4(6):591–8.

    Article  CAS  PubMed  Google Scholar 

  11. Bales CW, et al. Marginal zinc deficiency in older adults: responsiveness of zinc status indicators. J Am Coll Nutr. 1994;13(5):455–62.

    Article  CAS  PubMed  Google Scholar 

  12. Lee D-Y, COUSINS RJ. Erythrocyte metallothionein response to dietary zinc in humans. 1993.

    Google Scholar 

  13. Brandt T. Dermatitis in children with disturbances of the general condition and the absorption of food elements. Acta Derm. 1936;17:513–46.

    Google Scholar 

  14. Katayama T, et al. Serum zinc concentration in acute myocardial infarction. Angiology. 1990;41(6):479–85.

    Article  CAS  PubMed  Google Scholar 

  15. Obara H, Tomite Y, Doi M. Serum trace elements in tube-fed neurological dysphagia patients correlate with nutritional indices but do not correlate with trace element intakes: case of patients receiving enough trace elements intake. Clin Nutr. 2008;27(4):587–93.

    Article  CAS  PubMed  Google Scholar 

  16. Van Wouwe JP. Clinical and laboratory assessment of zinc deficiency in Dutch children. A review. Biol Trace Elem Res. 1995;49(2-3):211–25.

    Article  PubMed  Google Scholar 

  17. Weismann K, Høyer H. Serum alkaline phosphatase activity in acrodermatitis enteropathica: an index of the serum zinc level. Acta Derm Venereol. 1978;59(1):89–90.

    Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  19. Wessells KR, King JC, Brown KH. Development of a plasma zinc concentration cutoff to identify individuals with severe zinc deficiency based on results from adults undergoing experimental severe dietary zinc restriction and individuals with acrodermatitis enteropathica. J Nutr. 2014;144(8):1204–10.

    Article  CAS  PubMed  Google Scholar 

  20. Seyhan ME, et al. Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease. Pediatr Dermatol. 2006;23(3):262–5.

    Article  PubMed  Google Scholar 

  21. Küry S, et al. Clinical utility gene card for: acrodermatitis enteropathica. Eur J Hum Genet. 2012;20(3):1–4.

    Google Scholar 

  22. Chowanadisai W, Lönnerdal B, Kelleher SL. Identification of a mutation in SLC30A2 (ZnT-2) in women with low milk zinc concentration that results in transient neonatal zinc deficiency. J Biol Chem. 2006;281(51):39699–707.

    Article  CAS  PubMed  Google Scholar 

  23. Itsumura N, et al. Compound heterozygous mutations in SLC30A2/ZnT2 results in low milk zinc concentrations: a novel mechanism for zinc deficiency in a breast-fed infant. PLoS One. 2013;8(5), e64045.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  24. Lasry I, et al. A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency. J Biol Chem. 2012;287(35):29348–61.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  25. Lova Navarro M, et al. Transient neonatal zinc deficiency due to a New autosomal dominant mutation in gene SLC30A2 (ZnT‐2). Pediatr Dermatol. 2014;31(2):251–2.

    Article  PubMed  Google Scholar 

  26. Miletta MC, et al. Transient neonatal zinc deficiency caused by a heterozygous G87R mutation in the zinc transporter ZnT-2 (SLC30A2) gene in the mother highlighting the importance of Zn 2. Int J Endocrinol. 2013;2013.

    Google Scholar 

  27. Shim JH, JK, Park HY, Lee DY, Yang JM. P212: Acrodermatitis enteropathica-like dermatosis secondary to acquired zinc deficiency. Unknown Journal. 2014;66:372.

    Google Scholar 

  28. Kim YJ, et al. Acrodermatitis enteropathica-like eruption associated with combined nutritional deficiency. J Korean Med Sci. 2005;20(5):908–11.

    Article  PubMed Central  PubMed  Google Scholar 

  29. Horrobin DF, Cunnane SC. Interactions between zinc, essential fatty acids and prostaglandins: relevance to acrodermatitis enteropathica, total parenteral nutrition, the glucagonoma syndrome, diabetes, anorexia nervosa and sickle cell anaemia. Med Hypotheses. 1980;6(3):277–96.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  31. Laureano A, et al. Transient symptomatic zinc deficiency in a preterm exclusively breast-fed infant. Dermatol Online J. 2014;20(2): 14–7.

    Google Scholar 

  32. Prasad AS. Discovery of human zinc deficiency: its impact on human health and disease. Adv Nutr. 2013;4(2):176–90.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  33. Guidelines for essential trace element preparations for parenteral use. A statement by an expert panel. AMA Department of Foods and Nutrition. JAMA. 1979;241(19):2051–4.

    Google Scholar 

  34. Williams ML, Packman S, Cowan MJ. Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. J Am Acad Dermatol. 1983;9(1):97–103.

    Article  CAS  PubMed  Google Scholar 

  35. Norton JA, et al. Amino acid deficiency and the skin rash associated with glucagonoma. Ann Intern Med. 1979;91(2):213–5.

    Article  CAS  PubMed  Google Scholar 

  36. Hansen RC, Lemen R, Revsin B. Cystic fibrosis manifesting with acrodermatitis enteropathica-like eruption. Association with essential fatty acid and zinc deficiencies. Arch Dermatol. 1983;119(1):51–5.

    Article  CAS  PubMed  Google Scholar 

  37. Dalgic B, Egritas O. Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis. Eur J Pediatr. 2011;170(10):1305–8.

    Article  PubMed  Google Scholar 

  38. Gehrig KA, Dinulos JG. Acrodermatitis due to nutritional deficiency. Curr Opin Pediatr. 2010;22(1):107–12.

    Article  PubMed  Google Scholar 

  39. Sehgal VN, Jain S. Acrodermatitis enteropathica. Clin Dermatol. 2000;18(6):745–8.

    Article  CAS  PubMed  Google Scholar 

  40. Danbolt N. Acrodermatitis enteropathica. Br J Dermatol. 1979;100(1):37–40.

    Article  CAS  PubMed  Google Scholar 

  41. Montinari M, Parodi A, Rongioletti F. Chapter 13: Aquired nutritional deficiencies. In: Smoller BR, Rongioletti F, editors. Clinical and pathological aspects of skin diseases in endocrine, metabolic, nutritional and deposition disease. New York: Springer; 2010.

    Google Scholar 

  42. Küry S, et al. Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet. 2002;31(3):239–40.

    Article  PubMed  Google Scholar 

  43. Wolf B, et al. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta. 1983;131(3):273–81.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Beigi, P.K.M., Maverakis, E. (2015). Diagnosis. In: Acrodermatitis Enteropathica. Springer, Cham. https://doi.org/10.1007/978-3-319-17819-6_5

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-17819-6_5

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-17818-9

  • Online ISBN: 978-3-319-17819-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics