Harlekiniktyose med mutation i ABCA12-genet

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Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Genetic analysis showed, that the child was homozygous for the mutation c.5121_5124del in ABCA12. The parents were related and were found heterozygous of this mutation. This clinical presentation with this new mutation has not been described in the literature before.

Original languageDanish
Article numberV01180078
JournalUgeskrift for Laeger
Issue number36
Number of pages2
Publication statusPublished - 2018

ID: 218615613