Harlekiniktyose med mutation i ABCA12-genet
Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
Lærke Heidam Juul Andersen, Louise Kelstrup, Tina Elisabeth Olsen, Morten Dunø, Finn Stener Jørgensen
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.
|Tidsskrift||Ugeskrift for Laeger|
|Status||Udgivet - 2018|