Harlekiniktyose med mutation i ABCA12-genet

Lærke Heidam Juul Andersen; Louise Kelstrup; Tina Elisabeth Olsen; Morten Dunø; Finn Stener Jørgensen

Harlekiniktyose med mutation i ABCA12-genet

Translated title of the contribution: Harlequin ichthyosis with a diaphragmatic hernia and a new mutation

Lærke Heidam Juul Andersen, Louise Kelstrup, Tina Elisabeth Olsen, Morten Dunø, Finn Stener Jørgensen

Department of Clinical Medicine

Abstract

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 contribution	Harlequin ichthyosis with a diaphragmatic hernia and a new mutation
Original language	Danish
Article number	V01180078
Journal	Ugeskrift for Laeger
Volume	180
Issue number	36
Number of pages	2
ISSN	0041-5782
Publication status	Published - 2018

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title = "Harlekiniktyose med mutation i ABCA12-genet",

abstract = "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.",

author = "Andersen, {L{\ae}rke Heidam Juul} and Louise Kelstrup and Olsen, {Tina Elisabeth} and Morten Dun{\o} and J{\o}rgensen, {Finn Stener}",

year = "2018",

language = "Dansk",

volume = "180",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

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TY - JOUR

T1 - Harlekiniktyose med mutation i ABCA12-genet

AU - Andersen, Lærke Heidam Juul

AU - Kelstrup, Louise

AU - Olsen, Tina Elisabeth

AU - Dunø, Morten

AU - Jørgensen, Finn Stener

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

M3 - Letter

C2 - 30187851

SN - 0041-5782

VL - 180

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 36

M1 - V01180078

ER -

Harlekiniktyose med mutation i ABCA12-genet

Abstract

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