Prenatal diagnosis of harlequin ichthyosis: a case report
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 inherit...
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| Main Authors: | , , , , |
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| Format: | Book |
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Korean Society of Obstetrics and Gynecology,
2020-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 2287-8572 2287-8580 10.5468/ogs.2020.63.1.94 |