Prenatal diagnosis of harlequin ichthyosis: a case report

Prenatal diagnosis of harlequin ichthyosis: a case report

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Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body.This disease is caused by mutations in the adenosine triphosphate-binding 2012 honda civic si coilovers cassette transporter protein A12 gene, and the pattern of inheritance is autosomal recessive.Prenatal sonographic diagnosis of abc material HI has not been frequently reported.Here, we report a case of HI detected at 28 weeks of gestation and discuss with the sonographic findings and a brief review of literature.

The diagnosis was reached mainly based on 2-dimensional and 3-dimensional ultrasound findings.Three-dimensional ultrasound applications help recognize facial morphology, and thus, greatly contributes to prenatal diagnoses.