Pediatric Acrodermatitis Enteropathica Workup

Updated: Aug 18, 2016
  • Author: KN Siva Subramanian, MD; Chief Editor: Dirk M Elston, MD  more...
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Workup

Laboratory Studies

In patients with acrodermatitis enteropathica (AE), the plasma zinc concentration is measured. Specimens are collected in plastic syringes or acid-washed Vacutainer tubes to prevent exogenous contamination that could lead to spuriously normal measurements. Red blood cell hemolysis prior to plasma separation can also lead to erroneous results. Around 60-80% of serum zinc is bound to albumin; thus, hypoalbuminemia must be accounted for when interpreting zinc levels.

In most patients with AE, plasma zinc concentrations are low (< 50 mcg/dL) but are not diagnostic. Zinc concentrations within the reference range have been reported in patients with AE, and low zinc concentrations have been reported in patients without AE. Most of the zinc accretion in a fetus occurs during the third trimester (at a rate of 850 mcg/kg/d). Therefore, in premature infants, a lack of stored zinc may precipitate symptoms early, especially if they are fed with formula.

Hair, saliva, or urine zinc levels are not reliable.

Production of serum alkaline phosphatase depends on zinc; therefore, a low level of alkaline phosphatase supports a diagnosis of AE.

Secondary infections may require cultures and additional therapy.

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Procedures

Skin or intestinal mucosal biopsy is rarely needed.

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Histologic Findings

Intestinal mucosal biopsy reveals a loss of villous architecture with increased cell infiltration in the lamina propria in patients with AE. The nuclei are enlarged with an open chromatin distribution.

Complete normalization of the intestinal mucosa is observed in mucosal biopsy samples after zinc sulphate treatment.

Histopathology of cutaneous lesions reveals intracellular edema and pallor of the upper third of the epidermis. This finding is not pathognomonic and may be observed in other states of nutritional deficiency (acrodermatitis dysmetabolica). Skin biopsy may identify other primary cutaneous diseases in the differential diagnosis

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