Acrodermatitis Enteropathica (AE) in Ophthalmology

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

Background

Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder characterized by periorificial and acral dermatitis, alopecia, growth failure, gastrointestinal disturbance, and diarrhea. Symptoms of AE occur within the first few months after birth and tend to appear in nonbreastfed infants or in infants shortly after discontinuation of breastfeeding. Ocular complications include lid and surface involvement as well as secondary infections. [1]

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Pathophysiology

The nature of the metabolic defect is currently attributed to a defect in zinc absorption. The AE mutation creates reduced zinc uptake and abnormal zinc metabolism in human fibroblasts. The gene defect is located on chromosome 8, characterized as the intestinal zinc transporter gene (ZIP4), or SLC39A4 gene, at locus 8q24.3. [2, 3, 4, 5]

An AE-like syndrome may also be seen in patients with severe nutritional deficiency who have chronic inflammatory disease such as severe allergy, who are receiving long-term total parenteral nutrition, or who live in resource-poor settings. [6]

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Epidemiology

Frequency

United States

Unknown

International

It is estimated that 1 in 500,000 people in Denmark have AE. An estimated 1.5 million people are affected in Brazil. [7]

Mortality/Morbidity

AE is lethal, usually within the first few years of life, if left untreated. However, an untreated adult survivor was reported.

Race

AE has no reported racial predilection.

Sex

AE has no reported sexual predilection.

Age

AE appears in the first few months after birth or after cessation of breastfeeding.

One case of biopsy-confirmed acquired AE has been reported in a 22-year-old woman with a zinc-deficient diet and no comorbidities. [8]

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Prognosis

With early diagnosis and zinc supplementation, the prognosis of AE is good. Ophthalmic complications are far less severe when the systemic disease is treated. Advanced cases may have severe ophthalmic complications.

Ocular surface complications and infections may include the following:

  • Blepharitis
  • Conjunctivitis
  • Keratitis, corneal ectasia, keratomalacia, and corneal neovascularization

Eyelid complications may include the following:

  • Trichiasis and entropion with secondary corneal damage
  • Ectropion, ptosis, lash loss, brow loss, and other lid deformities
  • Symblepharon

Amblyopia may develop.

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Patient Education

Dietary and genetic counseling are important.

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