Pediatric Acrodermatitis Enteropathica Clinical Presentation

  • Author: KN Siva Subramanian, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Aug 16, 2010
 

History

In assessing patients with suspected acrodermatitis enteropathica (AE), obtain information any siblings or relatives who have similar symptoms. A history of diarrhea, anorexia, photophobia, or behavioral changes suggests AE as a possibility in the differential diagnosis.

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Physical

In general, patients are miserable and depressed. Infants are inconsolable, irritable, have a hoarse cry, and may withdraw from contact.

  • Dermatitis: Erythematous, vesiculobullous, or pustular lesions that lead to dry, scaly, or eczematoid lesions distributed around periorificial and acral areas of the body are characteristic of AE (see images below). The borders of affected areas are sharply demarcated and have an accentuation of craquelé-like scale at the periphery. Paronychia may be present. Skin lesions in the diaper area. Skin lesions in the diaper area. Facial lesions. Facial lesions. Foot lesions. Foot lesions.
  • Alopecia: Partial or total hair loss may be evident. Wells and Winkelman (1961) described these symptoms in a series of 58 cases.[8] They found that 91% of their patients had diarrhea, 98% had alopecia, 96% had nail dystrophy, and 100% had dermatitis.
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Causes

Zinc deficiency causes all the aforementioned clinical symptoms, which are easily and rapidly reversible with zinc supplementation.

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Contributor Information and Disclosures
Author

KN Siva Subramanian, MD  Professor of Pediatrics and Obstetrics/Gynecology, Chief of Neonatal Perinatal Medicine, Hospital Ethicist, Georgetown University Hospital

KN Siva Subramanian, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Nutrition, American Society for Parenteral and Enteral Nutrition, American Society of Law, Medicine & Ethics, New York Academy of Sciences, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Silverman, MD  Clinical Associate Professor, Department of Pediatrics, Georgetown University; Clinical Associate Professor, Departments of Pediatrics and Dermatology, University of Virginia at Charlottesville

Robert A Silverman, MD is a member of the following medical societies: American Academy of Dermatology and American Academy of Pediatrics

Disclosure: Nothing to disclose.

Aimee M Barton, MD  Assistant Professor, Department of Pediatrics, Division of Neonatology, Georgetown University Medical Center

Aimee M Barton, MD is a member of the following medical societies: American Academy of Pediatrics and American Medical Association

Disclosure: Nothing to disclose.

Sepideh Montazami, MD  Assistant Professor, Department of Pediatrics, Section of Neonatal-Perinatal Medicine, Georgetown University School of Medicine

Sepideh Montazami, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, British Medical Association, and Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Kevin P Connelly, DO  Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University; Medical Director, Paws for Health Pet Visitation Program of the Richmond SPCA; Pediatric Emergency Physician, Emergency Consultants Inc, Chippenham Medical Center

Kevin P Connelly, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Merrily P M Poth, MD  Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences

Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

  1. Wang K, Pugh EW, Griffen S, et al. Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. Am J Hum Genet. Apr 2001;68(4):1055-60. [Medline].

  2. Eide DJ. The SLC39 family of metal ion transporters. Pflugers Arch. Feb 2004;447(5):796-800. [Medline].

  3. Wang S, Xue L, Guo ZP, Wang L, Yang Y. A novel SLC39A4 gene mutation in the family of an acrodermatitis enteropathica patient with an unusual presentation. Br J Dermatol. Aug 5 2008;[Medline].

  4. Nakano H, Nakamura Y, Kawamura T, et al. Novel and recurrent nonsense mutation of the SLC39A4 gene in Japanese patients with acrodermatitis enteropathica. Br J Dermatol. Jul 2009;161(1):184-6. [Medline].

  5. Schmitt S, Kury S, Giraud M, Dreno B, Kharfi M, Bezieau S. An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum Mutat. Jun 2009;30(6):926-33. [Medline].

  6. Prasad AS. Zinc: an overview. Nutrition. Jan-Feb 1995;11(1 Suppl):93-9. [Medline].

  7. Kiechl-Kohlendorfer U, Fink FM, Steichen-Gersdorf E. Transient symptomatic zinc deficiency in a breast-fed preterm infant. Pediatr Dermatol. Sep-Oct 2007;24(5):536-40. [Medline].

  8. Wells BT, Winkelmann RD. Acrodermatitis enteropathica. Report of 6 cases. Arch Dermatol. Jul 1961;84:40-52. [Medline].

  9. Arakawa T, Tamura T, Igarashi Y, et al. Zinc deficiency in two infants during total parenteral alimentation for diarrhea. Am J Clin Nutr. Feb 1976;29(2):197-204. [Medline].

  10. Barnes PM, Moynahan EJ. Zinc deficiency in acrodermatitis enteropathica: multiple dietary intolerance treated with synthetic diet. Proc R Soc Med. Apr 1973;66(4):327-9. [Medline].

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

  12. Chimenti F, Aouffen M, Favier A. Zinc homeostasis-proteins: new drug targets for triggering cell fate. Curr Drug Targets. 2003;4:323-8.

  13. Dallaha CJ, Lorincz AL, Aarnik ON. Acrodermatitis enteropathica: Review of the literature and report on a case successfully treated with diodoquin. JAMA. 1953;152:509-12.

  14. Danbolt N, Closs K. Acrodermatitis enteropathica. Acta Derm Venerol. 1942;22:17.

  15. Food and Nutrition Board, Institute of Medicine. Dietary reference intakes for vitamin A, vitamin K, boron, chromium, copper, iodine, iron, manganese, molybdenum, nickel, silicon, vanadium, and zinc. Washington, DC: National Academy Press; 2001:442-501. [Full Text].

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

  17. Grider A, Mouat MF. The acrodermatitis enteropathica mutation affects protein expression in human fibroblasts: analysis by two-dimensional gel electrophoresis. J Nutr. Aug 1998;128(8):1311-4. [Medline].

  18. 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].

  19. Hurley LS, Eckhert CD, Duncan JR, et al. [Acrodermatitis enteropathica and human breast milk]. Lancet. Jan 22 1977;1(8004):195. [Medline].

  20. Kharfi M, Zaraa I, Kury S, et al. [Acrodermatitis enteropathica in full-term breast-fed infant]. Ann Dermatol Venereol. Mar 2005;132(3):246-8. [Medline].

  21. Kuramoto Y, Igarashi Y, Tagami H. Acquired zinc deficiency in breast-fed infants. Semin Dermatol. Dec 1991;10(4):309-12. [Medline].

  22. 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].

  23. 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].

  24. Moynahan EJ. Letter: Acrodermatitis enteropathica: a lethal inherited human zinc-deficiency disorder. Lancet. Aug 17 1974;2(7877):399-400. [Medline].

  25. Moynahan EJ, Barnes PM. Zinc deficiency and a synthetic diet for lactose intolerance. Lancet. Mar 24 1973;1(7804):676-7. [Medline].

  26. Piela Z, Szuber M, Mach B, et al. Zinc deficiency in exclusively breast-fed infants. Cutis. Apr 1998;61(4):197-200. [Medline].

  27. Portnoy B, Molokhia M. Acrodermatitis enteropathica treated by zinc. Br J Dermatol. Dec 1974;91(6):701-3. [Medline].

  28. 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].

  29. Sivasubramanian KN, Henkin RI. Behavioral and dermatologic changes and low serum zinc and copper concentrations in two premature infants after parenteral alimentation. J Pediatr. Nov 1978;93(5):847-51. [Medline].

  30. Sivasubramanian KN, Hoy G, Davitt MK, et al. Zinc and copper changes after neonatal parenteral alimentation. Lancet. Mar 4 1978;1(8062):508. [Medline].

  31. Walravens PA, Hambidge KM, Neldner KH, et al. Zinc metabolism in acrodermatitis enteropathica. J Pediatr. Jul 1978;93(1):71-3. [Medline].

 
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Skin lesions in the diaper area.
Skin lesions in the diaper area (see image above) a few weeks after treatment with zinc.
Facial lesions.
Foot lesions.
Table 1. Zinc Content of Zinc-Rich Foods
FoodServing SizeZinc Content, mg
Oysters6 medium, cooked43.4
Dungeness crab3 oz, cooked4.6
Beef3 oz, cooked5.8
Turkey, dark meat3 oz, cooked3.5
Chicken, dark meat3 oz, cooked2.4
Pork3 oz, cooked2.2
Cashews1 oz1.6
Baked beans0.5 cup1.8
Yogurt, fruit1 cup (8 oz)1.8
Chickpeas (garbanzo beans)0.5 cup1.3
Almonds1 cup (8 oz)1.0
Milk1 cup (8 oz)1.0
Cheese cheddar1 oz0.9
Peanuts1 cup (8 oz)0.9
Table 2. Recommended Dietary Allowances for Zinc (elemental)
Life StageAgeAllowance, mg/d
MalesFemales
Infants0-6 mo22
7-12 mo33
Children1-3 y33
4-8 y55
9-13 y88
Adolescents14-18 y119
Pregnant, ≤ 19 yNA12
Breastfeeding, ≤ 19 yNA13
AdultsAll, ≥ 19 y118
Pregnant, ≥ 19 yNA11
Breastfeeding, ≥ 19 yNA12
NA = not applicable
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