The Experts below are selected from a list of 171 Experts worldwide ranked by ideXlab platform
Sebastien Kury - One of the best experts on this subject based on the ideXlab platform.
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Acrodermatitis Enteropathica a review of 29 tunisian cases
International Journal of Dermatology, 2010Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Bécima Fazaa, Hajer Aounallahskhiri, Mohamed Ridha KamounAbstract: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.
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tropical medicine rounds Acrodermatitis Enteropathica a review of 29 tunisian cases
International Journal of Dermatology, 2010Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Bécima Fazaa, Hajer Aounallahskhiri, Mohamed Ridha KamounAbstract: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.
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Tropical medicine rounds: Acrodermatitis Enteropathica: a review of 29 Tunisian cases: Acrodermatitis Enteropathica: a review
International Journal of Dermatology, 2010Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Hajer Aounallah-skhiri, Bécima Fazaa, Mohamed Ridha KamounAbstract: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.
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identification of slc39a4 a gene involved in Acrodermatitis Enteropathica
Nature Genetics, 2002Co-Authors: Sebastien Kury, Brigitte Dreno, Stephane Bezieau, Stephanie Giraudet, Monia Kharfi, Ridha Kamoun, Jeanpaul MoisanAbstract:We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with Acrodermatitis Enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.
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expression pattern genomic structure and evaluation of the human slc30a4 gene as a candidate for Acrodermatitis Enteropathica
Human Genetics, 2001Co-Authors: Sebastien Kury, Marieclaire Devilder, Herve Avetloiseau, Brigitte Dreno, Jeanpaul MoisanAbstract:Slc30a4 is the fourth and last identified member of a mammalian proteins family presumably involved in the cellular transport of zinc, solute carrier family 30. The murine homologue of the human SLC30A4 gene has previously been investigated and found responsible for the lm, a phenotype due to zinc deficiency. According to the strong homology between mouse and human SLC30A4 coding sequences, and to the very similar clinical features encountered in the murine lm and in human Acrodermatitis Enteropathica, SLC30A4 has appeared to us to be a good candidate for Acrodermatitis Enteropathica. Here we detail the genomic structure of human SLC30A4 together with its localization on chromosome 15q15-q21. We also report the mutational analysis of human SLC30A4 in ten families with Acrodermatitis Enteropathica, which enabled us to exclude this gene from any involvement in the disorder of the patients examined.
Jeanpaul Moisan - One of the best experts on this subject based on the ideXlab platform.
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identification of slc39a4 a gene involved in Acrodermatitis Enteropathica
Nature Genetics, 2002Co-Authors: Sebastien Kury, Brigitte Dreno, Stephane Bezieau, Stephanie Giraudet, Monia Kharfi, Ridha Kamoun, Jeanpaul MoisanAbstract:We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with Acrodermatitis Enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.
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expression pattern genomic structure and evaluation of the human slc30a4 gene as a candidate for Acrodermatitis Enteropathica
Human Genetics, 2001Co-Authors: Sebastien Kury, Marieclaire Devilder, Herve Avetloiseau, Brigitte Dreno, Jeanpaul MoisanAbstract:Slc30a4 is the fourth and last identified member of a mammalian proteins family presumably involved in the cellular transport of zinc, solute carrier family 30. The murine homologue of the human SLC30A4 gene has previously been investigated and found responsible for the lm, a phenotype due to zinc deficiency. According to the strong homology between mouse and human SLC30A4 coding sequences, and to the very similar clinical features encountered in the murine lm and in human Acrodermatitis Enteropathica, SLC30A4 has appeared to us to be a good candidate for Acrodermatitis Enteropathica. Here we detail the genomic structure of human SLC30A4 together with its localization on chromosome 15q15-q21. We also report the mutational analysis of human SLC30A4 in ten families with Acrodermatitis Enteropathica, which enabled us to exclude this gene from any involvement in the disorder of the patients examined.
Nasim Fazel - One of the best experts on this subject based on the ideXlab platform.
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Acrodermatitis Enteropathica.
Dermatology online journal, 2007Co-Authors: Emanual Michael Maverakis, Peter J Lynch, Nasim FazelAbstract:A 13-year-old girl presented with a history of red scaly plaques involving the chest, arms and legs beginning in infancy. Punch biopsy revealed psoriasiform hyperplasia and pallor of the epidermis. The patient's serum zinc level was 36 mug/dl [nl. 66-144 mug/dl]. A diagnosis of Acrodermatitis Enteropathica was established and the patient responded well to zinc replacement therapy. Acrodermatitis Enteropathica is a rare autosomal recessive disorder caused by mutations in SLC39A4, which encodes the tissue-specific zinc transporter ZIP4.
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Acrodermatitis Enteropathica and an overview of zinc metabolism
Journal of the American Academy of Dermatology, 2007Co-Authors: Emanual Michael Maverakis, Maxwell A Fung, Peter Lynch, Michelle Draznin, Daniel J. Michael, Beth S. Ruben, Nasim FazelAbstract:Acrodermatitis Enteropathica is a rare autosomal recessive disorder of zinc deficiency. The genetic defect has been mapped to 8q24 and the defective gene identified as SLC39A4, which encodes the zinc transporter Zip4. The diagnosis is made by way of clinical presentation together with histopathology and laboratory tests. Here we provide an overview of zinc metabolism and a description of inherited and acquired zinc deficiency.
Monia Kharfi - One of the best experts on this subject based on the ideXlab platform.
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Acrodermatitis Enteropathica a review of 29 tunisian cases
International Journal of Dermatology, 2010Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Bécima Fazaa, Hajer Aounallahskhiri, Mohamed Ridha KamounAbstract: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.
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tropical medicine rounds Acrodermatitis Enteropathica a review of 29 tunisian cases
International Journal of Dermatology, 2010Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Bécima Fazaa, Hajer Aounallahskhiri, Mohamed Ridha KamounAbstract: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.
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Tropical medicine rounds: Acrodermatitis Enteropathica: a review of 29 Tunisian cases: Acrodermatitis Enteropathica: a review
International Journal of Dermatology, 2010Co-Authors: Monia Kharfi, Sebastien Kury, S Schmitt, Nadia El Fekih, Hajer Aounallah-skhiri, Bécima Fazaa, Mohamed Ridha KamounAbstract: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.
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identification of slc39a4 a gene involved in Acrodermatitis Enteropathica
Nature Genetics, 2002Co-Authors: Sebastien Kury, Brigitte Dreno, Stephane Bezieau, Stephanie Giraudet, Monia Kharfi, Ridha Kamoun, Jeanpaul MoisanAbstract:We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with Acrodermatitis Enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.
Katsumi Hanada - One of the best experts on this subject based on the ideXlab platform.
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Novel SLC39A4 mutations in Acrodermatitis Enteropathica.
Journal of Investigative Dermatology, 2003Co-Authors: Aoi Nakano, Hajime Nakano, Kazuo Nomura, Yuka Toyomaki, Katsumi HanadaAbstract: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.
