Acrodermatitis Enteropathica (AE) in Ophthalmology Workup

Updated: Jun 01, 2021
  • Author: John D Sheppard, Jr, MD, MMSc; Chief Editor: Hampton Roy, Sr, MD  more...
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Laboratory Studies

Plasma zinc levels are low in patients with acrodermatitis enteropathica (AE), and characteristic histopathologic findings are seen on skin biopsy.

Hair, urine, and parotid saliva zinc levels, as well as serum alkaline phosphatase activity (which lowers later in the disease) may be helpful.

Maternal breast milk zinc concentrations also may help differentiate AE from acquired zinc deficiency.


Other Tests

The gene for AE is localized to chromosomal region 8q24.3 and the SLC39A4 gene, thereby identified as the gene for AE. SLC39A4 mutations have been demonstrated in several families with AE, and, in the initial Nakano study, two Japanese families with AE and with SLC39A4 mutations were described. [15] Their mutation detection strategy consisted of polymerase chain reaction amplification of all 12 exons and flanking of intronic sequences, followed by direct nucleotide sequencing. It revealed 3 novel mutations, 1017ins53, which creates a premature termination codon, and 2 mis-sense mutations, R95C and Q303H. These techniques can be used to identify carriers, newborns, or fetuses by amniocentesis.


Histologic Findings

Histopathologic examination of the skin and eyelids reveals parakeratosis of the stratum corneum with occasional neutrophils and intracellular edema. The granular cell layer is diminished, and the upper epidermis demonstrates pallor and edema. Focal dyskeratosis is seen. The epidermis may be psoriasiform or atrophic. Occasionally, subcorneal (cutaneous) pustules are seen.

One case report details the ocular histopathology of a child who died before efficacious treatment was available. The findings include corneal epithelial thinning and loss of polarity of corneal epithelial cells, anterior corneal scarring and loss of Bowman membrane, cataract formation, ciliary body atrophy, retinal degeneration, retinal pigment epithelium (RPE) depigmentation, and optic atrophy.