Assuntos
Acrodermatite/genética , Proteínas de Transporte de Cátions/genética , Mutação , Pele/patologia , Zinco/deficiência , Acrodermatite/diagnóstico , Acrodermatite/tratamento farmacológico , Análise Mutacional de DNA , Suplementos Nutricionais , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Lactente , Fenótipo , Pele/efeitos dos fármacos , Resultado do TratamentoRESUMO
We report the case of a 3-month-old full-term, breast-fed infant with clinical and laboratorial findings consistent with acrodermatitis enteropathica. In addition, the mother had low zinc levels in her breast milk. Mutation analysis revealed a novel insertion in the SLC39A4 gene.
Assuntos
Acrodermatite/genética , Proteínas de Transporte de Cátions/genética , Mutação , Acrodermatite/tratamento farmacológico , Suplementos Nutricionais , Éxons , Feminino , Heterozigoto , Homozigoto , Humanos , Lactente , Masculino , Leite Humano/química , Resultado do Tratamento , Zinco/sangue , Zinco/deficiência , Sulfato de Zinco/uso terapêuticoRESUMO
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.