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Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient
1Department of Dermatology Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
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.
