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Harlekiniktyose med mutation i ABCA12-genet

Forfatter(e)

Lærke Heidam Juul Andersen1, Louise Kelstrup1, Tina Elisabeth Olsen2, Morten Dunø3 & Finn Stener Jørgensen4

1) Gynækologisk-obstetrisk Afdeling, Hvidovre Hospital 2) Patologiafdelingen, Rigshospitalet 3) Molekylærgenetisk Laboratorium, Klinisk Genetisk Klinik, Rigshospitalet 4) Ultralydklinikken, Gynækologisk-obstetrisk Afdeling, Hvidovre Hospital Ugeskr Læger 2018;180:V01180078

Reference: 
Ugeskr Læger 2018;180:V01180078
Sidetal: 
2-3
Harlequin ichthyosis with a diaphragmatic hernia and a new mutation

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.

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