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Acrodermatitis Enteropathica in Ophthalmology Clinical Presentation

  • Author: John D Sheppard, Jr, MD, MMSc; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Dec 17, 2014
 

History

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  • Symptoms of AE occur within the first few months after birth in nonbreastfed infants or tend to appear in infants shortly after discontinuation of breastfeeding.
  • Ocular disease is a byproduct of lid, conjunctival, and ocular surface deficits.
  • Infants display photophobia and blepharospasm, which may threaten deprivation amblyopia in severe cases.
  • Lid sloughing and secondary infections can be significant. Alopecia of the scalp, eyebrows, and cilia is common.
  • Chronic conjunctivitis, blepharitis, punctate keratopathy, and even keratomalacia further complicate the ocular picture.
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Physical

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  • Physical examination is significant for erythematous patches and plaques of dry, scaly, eczematous skin, which may evolve into crusted, vesiculobullous, erosive, and pustular lesions. Lesions are distributed in a periorificial and acral pattern, on the face, scalp, lids, hands, feet, and anogenital areas (see image below).[6]
    Sharply demarcated, brightly erythematous periorifSharply demarcated, brightly erythematous periorificial plaque in an infant with acrodermatitis enteropathica.
  • Paronychia and alopecia with loss of scalp hair, eyebrows, and eyelashes may occur.
  • Ocular manifestations may also include punctal stenosis, corneal changes, and keratomalacia.
  • The cutaneous lesions may become secondarily infected with Staphylococcus aureus and Candida albicans.
  • Infants also may experience withdrawal, growth failure, photophobia, and loss of appetite, leading to failure to thrive.
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Causes

The appearance of AE shortly after the cessation of breastfeeding has led many to believe that human milk has a beneficial ligand, which bovine milk lacks. Evans and Johnson postulated picolinate as the ligand[7] ; Lonnerdal suggested citric acid[8] ; Cousins and Smith proposed that the protein concentration of human milk affects zinc bioavailability.[9]

The nature of the metabolic defect has been debated and clarified with the identification of the 8q24.3 locus. Fibroblast proteins that are absent in the fibroblasts of patients with AE have recently been discovered, suggesting that these proteins may be responsible for decreased zinc uptake and abnormal zinc metabolism.

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Contributor Information and Disclosures
Author

John D Sheppard, Jr, MD, MMSc Professor of Ophthalmology, Microbiology and Molecular Biology, Clinical Director, Thomas R Lee Center for Ocular Pharmacology, Ophthalmology Residency Research Program Director, Eastern Virginia Medical School; President, Virginia Eye Consultants

John D Sheppard, Jr, MD, MMSc is a member of the following medical societies: American Academy of Ophthalmology, American Society for Microbiology, American Society of Cataract and Refractive Surgery, Association for Research in Vision and Ophthalmology, American Uveitis Society

Disclosure: Nothing to disclose.

Coauthor(s)

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.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Christopher J Rapuano, MD Professor, Department of Ophthalmology, Jefferson Medical College of Thomas Jefferson University; Director of the Cornea Service, Co-Director of Refractive Surgery Department, Wills Eye Hospital

Christopher J Rapuano, MD is a member of the following medical societies: American Academy of Ophthalmology, American Ophthalmological Society, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, International Society of Refractive Surgery, Cornea Society, Eye Bank Association of America

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Cornea Society, Allergan, Bausch & Lomb, Bio-Tissue, Shire, TearScience, TearLab<br/>Serve(d) as a speaker or a member of a speakers bureau for: Allergan, Bausch & Lomb, Bio-Tissue, TearScience.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Andrew A Dahl, MD, FACS Assistant Professor of Surgery (Ophthalmology), New York College of Medicine (NYCOM); Director of Residency Ophthalmology Training, The Institute for Family Health and Mid-Hudson Family Practice Residency Program; Staff Ophthalmologist, Telluride Medical Center

Andrew A Dahl, MD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Intraocular Lens Society, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Medical Society of the State of New York, New York State Ophthalmological Society, Outpatient Ophthalmic Surgery Society

Disclosure: Nothing to disclose.

References
  1. Tabanlioglu D, Ersoy-Evans S, Karaduman A. Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term. Pediatr Dermatol. 2009 Mar-Apr. 26(2):150-4. [Medline].

  2. Andrews GK. Regulation and function of Zip4, the acrodermatitis enteropathica gene. Biochem Soc Trans. 2008 Dec. 36:1242-6. [Medline].

  3. Kambe T, Andrews GK. Novel proteolytic processing of the ectodomain of the zinc transporter ZIP4 (SLC39A4) during zinc deficiency is inhibited by acrodermatitis enteropathica mutations. Mol Cell Biol. 2009 Jan. 29(1):129-39. [Medline].

  4. Coromilas A, Brandling-Bennett HA, Morel KD, Chung WK. Novel SLC39A4 mutation in acrodermatitis enteropathica. Pediatr Dermatol. 2011 Nov-Dec. 28(6):697-700. [Medline].

  5. 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 Aug. 144(8):1204-10. [Medline].

  6. Jensen SL, McCuaig C, Zembowicz A, Hurt MA. Bullous lesions in acrodermatitis enteropathica delaying diagnosis of zinc deficiency: a report of two cases and review of the literature. J Cutan Pathol. 2008 Oct. 35 Suppl 1:1-13. [Medline].

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

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

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

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

  11. Gupta M, Mahajan VK, Mehta KS, Chauhan PS. Zinc therapy in dermatology: a review. Dermatol Res Pract. 2014. 2014:709152. [Medline]. [Full Text].

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

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

  14. Bye AM, Goodfellow A, Atherton DJ. Transient zinc deficiency in a full-term breast-fed infant of normal birth weight. Pediatr Dermatol. 1985 Jul. 2(4):308-11. [Medline].

  15. Cameron JD, McClain CJ. Ocular histopathology of acrodermatitis enteropathica. Br J Ophthalmol. 1986 Sep. 70(9):662-7. [Medline].

  16. Camille S. Matta, MD; Gary V. Felker, MD; Carl H. Ide, MD. Eye Manifestations in Acrodermatitis Enteropathica. Arch Ophthalmol. 93(2):140-142.

  17. Champion RH, et al, eds. Rook/Wilkinson/Ebling Textbook of Dermatology. Vol. 3. 1998: 2668.

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

  19. Elder D, Elenitsas R, Jawarsky C, et al, eds. Lever's Histopathology of the Skin. 8th ed. Philadelphia: Lippincott-Raven. 1998:356.

  20. Feldberg R, Yassur Y, Ben-Sira I, et al. Keratomalacia in acrodermatitis enteropathica (AE). Metab Pediatr Ophthalmol. 1981. 5(3-4):207-11. [Medline].

  21. Fraker PJ, King LE, Laakko T, Vollmer TL. The dynamic link between the integrity of the immune system and zinc status. J Nutr. 2000 May. 130(5S Suppl):1399S-406S. [Medline]. [Full Text].

  22. 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 Feb. 5(1):10-3. [Medline].

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

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

  25. Hambridge KM. The role of zinc and other trace metals in pediatric nutrition and health. Pediatr Clin N Amer. 1977 Feb. 1:95-106.

  26. Matta CS, Felker GV, Ide CH. Eye manifestations in acrodermatitis enteropathica. Arch Ophthalmol. 1975 Feb. 93(2):140-2. [Medline].

  27. Ozturkcan S, Icagasioglu D, Akyol M, Cevit O. A case of acrodermatitis enteropathica. J Dermatol. 2000 Jul. 27(7):475-7. [Medline].

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

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

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

  31. Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S. An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum Mutat. 2009 Jan 29. [Medline].

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

  33. Vasantha K, Kannan KA. Acrodermatitis enteropathica--a case report. Indian J Ophthalmol. 1989 Oct-Dec. 37(4):197-8. [Medline].

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

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