Congenital ichthyosiform erythroderma with a novel variant inin a Chinese patient  

作　　者：Zhou Yang Zhan Qi Zhe Xu Wei Li Lin Ma 

机构地区：[1]Department of Dermatology,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing,China [2]Beijing Key Laboratory for Genetics of Birth Defects,MOE Key Laboratory of Major Diseases in Children,Center for Medical Genetics,Beijing Pediatric Research Institute,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,China

出　　处：《Pediatric Investigation》2020年第1期51-54,共4页儿科学研究（英文）

基　　金：National Natural Science Foundation of China(No.81673042)。

摘　　要：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.

关 键 词：Congenital ichthyosiform erythroderma ABCA12 Gene mutation 

分 类 号：R75[医药卫生—皮肤病学与性病学]