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Acrodermatitis Enteropathica

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Sebastien Kury – One of the best experts on this subject based on the ideXlab platform.

  • Acrodermatitis Enteropathica a review of 29 tunisian cases
    International Journal of Dermatology, 2010
    Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Bécima Fazaa, Hajer Aounallahskhiri, Mohamed Ridha Kamoun
    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.

  • tropical medicine rounds Acrodermatitis Enteropathica a review of 29 tunisian cases
    International Journal of Dermatology, 2010
    Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Bécima Fazaa, Hajer Aounallahskhiri, Mohamed Ridha Kamoun
    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.

  • Tropical medicine rounds: Acrodermatitis Enteropathica: a review of 29 Tunisian cases: Acrodermatitis Enteropathica: a review
    International Journal of Dermatology, 2010
    Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Hajer Aounallah-skhiri, Bécima Fazaa, Mohamed Ridha Kamoun
    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.

Jeanpaul Moisan – One of the best experts on this subject based on the ideXlab platform.

Nasim Fazel – One of the best experts on this subject based on the ideXlab platform.

Monia Kharfi – One of the best experts on this subject based on the ideXlab platform.

  • Acrodermatitis Enteropathica a review of 29 tunisian cases
    International Journal of Dermatology, 2010
    Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Bécima Fazaa, Hajer Aounallahskhiri, Mohamed Ridha Kamoun
    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.

  • tropical medicine rounds Acrodermatitis Enteropathica a review of 29 tunisian cases
    International Journal of Dermatology, 2010
    Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Bécima Fazaa, Hajer Aounallahskhiri, Mohamed Ridha Kamoun
    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.

  • Tropical medicine rounds: Acrodermatitis Enteropathica: a review of 29 Tunisian cases: Acrodermatitis Enteropathica: a review
    International Journal of Dermatology, 2010
    Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Hajer Aounallah-skhiri, Bécima Fazaa, Mohamed Ridha Kamoun
    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.

Katsumi Hanada – One of the best experts on this subject based on the ideXlab platform.

  • Novel SLC39A4 mutations in Acrodermatitis Enteropathica.
    Journal of Investigative Dermatology, 2003
    Co-Authors: Aoi Nakano, Hajime Nakano, Kazuo Nomura, Yuka Toyomaki, Katsumi Hanada
    Abstract:

    Acrodermatitis Enteropathica is an autosomal recessive disease characterized by skin involvement due to defective intestinal zinc absorption. Usually, the skin lesions include erythema, erosions, and small blisters in perioral, perianal regions, and hands and feet, which develop soon after weaning from the breast. The Acrodermatitis Enteropathica gene has been localized to chromosomal region 8q24.3 and subsequently the SLC39A4 gene has been disclosed as the Acrodermatitis Enteropathica gene. SLC39A4 mutations have been demonstrated in several Acrodermatitis Enteropathica families, and in this study we have examined two Japanese Acrodermatitis Enteropathica families for SLC39A4 mutations. The mutation detection strategy consisted of polymerase chain reaction amplification of all 12 exons and flanking intronic sequences, followed by direct nucleotide sequencing. It revealed three novel mutations, 1017ins53, which creates a premature termination codon, and two mis-sense mutations, R95C and Q303H.