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
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.
