European Journal of Pediatrics

, Volume 149, Issue 1, pp 2–8 | Cite as

Clinical and laboratory diagnosis of acrodermatitis enteropathica

  • J. P. Van Wouwe


Acrodermatitis enteropathica is an inborn error of metabolism resulting in zine malabsorption and severe zinc deficiency. From personal experience and a literature review the following conclusions were drawn: 1. Symptoms other than dermatitis, vary with age. Diarrhoea, mood changes, anorexia, and neurological disturbance were reported most frequently in infancy. Growth retardation, alopecia, weight loss and recurrent infections were prevalent in toddlers and schoolchildren. Spontaneous remission may occur at adolescence. 2. The severity of symptoms also varies. Intermittent or mild cases of the disease and those presenting with uncommon features such as ophthalmic, cerebral or hepatic involvement, are easily overlooked. In the severe cases this may result in a fatal outcome. If untreated, the overall mortality rate is 20%, being higher in males. 3. The laboratory diagnosis is hazardous. In patients, mean zine values in serum, urine and hair were ca. 50% of normal levels. There is a 15% overlap with healthy controls; moreover, low zine levels in serum, urine or hair are also found in other diseases. A more specific test is required. 4. In cases of doubt, in vitro or in vivo zine absorption tests using radioisotopes (65Zn or69mZn) may be performed. These appear not to be influenced by other conditions and show less overlap with controls. If such tests are unavailable, the clinical response to 3–30 μmol zinc/kg per day for 5 days may be awaited. This is recommended in infants or children with one or more symptoms of acrodermatitis enteropathica.

Key words

Acrodermatitis enteropathica Zine deficiency Laboratory tests Reliability of diagnosis 


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© Springer-Verlag 1989

Authors and Affiliations

  • J. P. Van Wouwe
    • 1
  1. 1.Department of PaediatricsState University at LeidenLeidenThe Netherlands

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