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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.

Translated title of the contributionHarlequin ichthyosis with a diaphragmatic hernia and a new mutation
Original languageDanish
JournalUgeskrift for Laeger
Volume180
Issue number36
Pages (from-to)V01180078
ISSN0041-5782
Publication statusPublished - 3 Sep 2018

ID: 55173741