Acrodermatitis Enteropathica in Ophthalmology Clinical Presentation

  • Author: John D Sheppard Jr, MD, MMSc; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Feb 14, 2012
 

History

  • 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

  • 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.[5]
  • 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[6] ; Lonnerdal suggested citric acid[7] ; Cousins and Smith proposed that the protein concentration of human milk affects zinc bioavailability.[8]

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, American Uveitis Society, and Association for Research in Vision and Ophthalmology

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, and South Carolina Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Andrew A Dahl, MD  Director of Ophthalmology Teaching, Mid-Hudson Family Practice Institute, The Institute for Family Health; Assistant Professor of Surgery (Ophthalmology), New York College of Medicine

Andrew A Dahl, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, and Wilderness Medical Society

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD  Associate Professor 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, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

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 Institute

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

Disclosure: Allergan Honoraria Speaking and teaching; Allergan Consulting fee Consulting; Alcon Honoraria Speaking and teaching; RPS Ownership interest Other; EyeGate Pharma Consulting fee Consulting; Bausch & Lomb Honoraria Speaking and teaching; Bausch & Lomb Consulting; Merck Honoraria Speaking and teaching

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

Disclosure: Nothing to disclose.

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

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