Treatment options for ichthyosis and ichthyosiform disorders are limited and often unsatisfactory.Twenty-four patients used combination creams of 2%cholesterol with 2%lovastatin,and 10%glycolic acid with 0.025% tretin...Treatment options for ichthyosis and ichthyosiform disorders are limited and often unsatisfactory.Twenty-four patients used combination creams of 2%cholesterol with 2%lovastatin,and 10%glycolic acid with 0.025% tretinoin and 2%ketoconazole daily.At one month(n=20),the average percent reduction in severity scores was 40%,and at three months(n=10),it was 60.3%.Side effects were mainly mild irritation.These findings suggest that these two combination creams could be beneficial in the treatment of ichthyosiform disorders.展开更多
Introduction:Congenital ichthyosiform erythroderma(CIE)is characterized by fine,whitish scales on a background of erythematous skin over the whole body;it is reportedly caused by mutations inABCA12,ALOX12B,ALOXE3,CERS...Introduction:Congenital ichthyosiform erythroderma(CIE)is characterized by fine,whitish scales on a background of erythematous skin over the whole body;it is reportedly caused by mutations inABCA12,ALOX12B,ALOXE3,CERS3,CYP4F22,NIPAL4,PNPLA1,andTGM1 genes.Case presentation:A 15-month-old girl presented with CIE associated with compound heterozygousABCA12 mutations,a known missense mutation c.4139A>G(p.Asn1380Ser)from her father,and a novel missense mutation c.4300A>G(p.Thr1434Ala)from her mother.Conclusion:This is the first report to indicate that compound heterozygous missense mutations in the first ATP-binding cassette ofABCA12 could contribute to the onset of CIE.展开更多
文摘Treatment options for ichthyosis and ichthyosiform disorders are limited and often unsatisfactory.Twenty-four patients used combination creams of 2%cholesterol with 2%lovastatin,and 10%glycolic acid with 0.025% tretinoin and 2%ketoconazole daily.At one month(n=20),the average percent reduction in severity scores was 40%,and at three months(n=10),it was 60.3%.Side effects were mainly mild irritation.These findings suggest that these two combination creams could be beneficial in the treatment of ichthyosiform disorders.
基金National Natural Science Foundation of China(No.81673042)。
文摘Introduction:Congenital ichthyosiform erythroderma(CIE)is characterized by fine,whitish scales on a background of erythematous skin over the whole body;it is reportedly caused by mutations inABCA12,ALOX12B,ALOXE3,CERS3,CYP4F22,NIPAL4,PNPLA1,andTGM1 genes.Case presentation:A 15-month-old girl presented with CIE associated with compound heterozygousABCA12 mutations,a known missense mutation c.4139A>G(p.Asn1380Ser)from her father,and a novel missense mutation c.4300A>G(p.Thr1434Ala)from her mother.Conclusion:This is the first report to indicate that compound heterozygous missense mutations in the first ATP-binding cassette ofABCA12 could contribute to the onset of CIE.
