Acrodermatitis enteropathica: a review of 29 Tunisian cases

Abstract

Introduction: Acrodermatitis enteropathica is a rare autosomal recessive disease due to an abnormality in a zinc transporting molecule.

Methods: We conducted a retrospective monocentric study on 29 Tunisian cases of Acrodermatitis enteropathica (AE) treated in our Department of Dermatology in Tunisia, between January 1981 and June 2008.

Results: The age of onset of disorders was between 15 d and 12 months (mean 6.86 ± 3.25 months). The delay of consultation ranged between 15 d and 8 months (mean of 2.8 ± 2.17 months) after onset. Onset of gastrointestinal and psychiatric signs depended significantly on consulting times. Plasma zinc levels ranged between 14 and 88 lg/100 ml (mean 44.86 ± 18.4 lg/100 ml). There was not a significant relation between zincemia and clinical features. Genetic analyses in 13 of our patients showed three different mutations in the SLC39A4 gene: c.1223_1227del (p.Trp411ArgfsX7) in exon 7,c.143T>G (p.Leu48X) in exon 1 and c.1784T>C (p.Gly595Val) in exon 11. No significant genotype-phenotype correlations could be established.

Conclusion: Acrodermatitis enteropathica is a rare disease which diagnosis is easy. Its biological confirmation is made on a simple dosage of zincemia. However, the diagnosis is not always suggested, and is unfortunately made late. At present, there is a molecular test to detect SLC39A4 mutations.