Acrodermatitis Enteropathica in Ophthalmology

Updated: Dec 17, 2014
  • 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 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, or SLC39A4 gene, at locus 8q24.3. [2, 3, 4, 5]

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Epidemiology

Frequency

United States

Unknown

International

It is estimated that 1 in 500,000 people in Denmark are affected.

Mortality/Morbidity

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

Race

No racial predilection exists.

Sex

No sexual preference exists.

Age

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

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