Congenital ichthyosiform erythroderma with a novel variant inABCA12in a Chinese patient

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.

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

“…This needs to be identified with CIE in autosomal recessive congenital ichthyosis. 13 A novel mutation, p.Met150Val identified in the 1A domain of KRT10 clarified the diagnosis. The clinical manifestation of KRT10‐P2 was obviously different from KRT10‐P1 (p.Met150Thr) and two other previously reported patients (p.Met150Thr and p.Met150Arg in KRT10) who all presented with typical EI with prominent blister histories.…”

“…Interestingly, KRT10‐P2 had generalized ichthyosiform erythroderma at birth. This needs to be identified with CIE in autosomal recessive congenital ichthyosis 13 . A novel mutation, p.Met150Val identified in the 1A domain of KRT10 clarified the diagnosis.…”

Congenital ichthyosiform erythroderma due to a CYP4F22 mutation responds to ustekinumab: A case report and review of the literature

“…3 CIE is characterized by fine, whitish scales on a background of erythematous skin. 4 Mutations of ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1 and TGM1 genes have been reported to cause CIE. 4 CYP4F22 genotype has been correlated to a phenotype of ARCI characterized by collodion at birth, absence of ectropion or eclabium and non-adherent scales with minimal erythema, which is worsened in the flexures areas, including the neck, groin, armpits and across the trunk. 5 Ichthyoses management is complex and usually unsatisfactory.…”