Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in 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 1...
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| Main Authors: | , , , , |
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| Format: | Book |
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Wiley,
2020-03-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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. |
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| Item Description: | 2574-2272 10.1002/ped4.12182 |