Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient

Zhou Yang; Zhan Qi; Zhe Xu; Wei Li; Lin Ma

doi:10.1002/ped4.12182

Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient

Pediatr Investig. 2020 Mar 17;4(1):51-54. doi: 10.1002/ped4.12182. eCollection 2020 Mar.

Authors

Zhou Yang¹, Zhan Qi², Zhe Xu¹, Wei Li², Lin Ma¹

Affiliations

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.

Abstract

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 in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, and TGM1 genes.

Case presentation: A 15-month-old girl presented with CIE associated with compound heterozygous ABCA12 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 of ABCA12 could contribute to the onset of CIE.

Keywords: ABCA12; Congenital ichthyosiform erythroderma; Gene mutation.

Publication types

Case Reports