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

Abstract

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

• Congenital ichthyosiform erythroderma
• ABCA12
• Gene mutation