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KMID : 1143220200630010094
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Obstetrics & Gynecology Science
2020 Volume.63 No. 1 p.94 ~ p.97
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Prenatal diagnosis of harlequin ichthyosis: a case report
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Vijayakumari Mudunuri
Reddy Nallamilli Sunitha
Routhu Madhavilatha
Vuchuru Manasvi
Reddy Desai. Kamalakar
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Abstract
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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 cassette transporter protein A12 gene, and the pattern of inheritance is autosomal recessive. Prenatal sonographic diagnosis of 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.
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KEYWORD
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Harlequin ichthyosis, Neonates, Keratinizing disorder, Prenatal diagnosis
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