Acrodermatitis Enteropathica (AE) in Ophthalmology Clinical Presentation

Updated: Jan 17, 2019
  • Author: John D Sheppard, Jr, MD, MMSc; Chief Editor: Hampton Roy, Sr, MD  more...
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Presentation

History

Symptoms of acrodermatitis enteropathica (AE) occur within the first few months after birth in nonbreastfed infants or tend to appear in infants shortly after discontinuation of breastfeeding. A case report has described AE simultaneously developing in four-month-old twin girls shortly after being weaned from breastmilk. [9]

Ocular disease is a byproduct of lid, conjunctival, and ocular surface deficits.

Infants with AE 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 (see image below). [10]

Sharply demarcated, brightly erythematous periorif Sharply 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 of AE may also include punctal stenosis, corneal changes, excessive lacrimation, and keratomalacia.

The cutaneous lesions may become secondarily infected with Staphylococcus aureus and Candida albicans.

Infants with AE 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 [11] ; Lonnerdal suggested citric acid [12] ; Cousins and Smith proposed that the protein concentration of human milk affects zinc bioavailability. [13]

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. ZIP4 (SLC39A4 gene) is largely expressed in keratinocytes and has been shown to be an important regulator of epidermal differentiation, explaining the oculocutaneous manifestations of AE. [14]

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Complications

Complications of AE may include the following:

  • Ophthalmologic irritative complications and secondary infections, particularly with Staphylococcus and C albicans
  • Lid disease including seborrheic and infectious blepharitis, trichiasis, and entropion
  • Severe corneal disease including ectasia, infectious keratitis, and keratomalacia
  • Secondary Sjögren syndrome and keratitis sicca
  • Dermatologic irritative states and secondary infections, particularly with Staphylococcus and C albicans
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