Link: http://www.ncbi.nlm.nih.gov/pubmed/25840055

Ugeskr Laeger. 2018 Sep 3;180(36). pii: V01180078.
[Harlequin ichthyosis with a diaphragmatic hernia and a new mutation].
[Article in Danish]
Andersen LHJ1, Kelstrup L, Olsen TE, Dunø M, Jørgensen FS.
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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.

PMID: 30187851