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Tropical medicine rounds: Acrodermatitis enteropathica: a review of 29 Tunisian cases
Author(s) -
Kharfi Monia,
El Fékih Nadia,
AounallahSkhiri Hajer,
Schmitt Sébastien,
Fazaa Bécima,
Küry Sébastien,
Kamoun Mohamed Ridha
Publication year - 2010
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2010.04566.x
Subject(s) - acrodermatitis enteropathica , medicine , exon , acrodermatitis , genotype , dermatology , gastroenterology , retrospective cohort study , zinc deficiency (plant disorder) , pathology , gene , genetics , biology , micronutrient , alternative medicine
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.