Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis
| Autor: | Swati Rathore, Liji Sarah David, Manisha Madhai Beck, Mandeep Singh Bindra, Gautham Arunachal |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: | |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 9, Iss 11, Pp QD04-QD06 (2015) |
| Druh dokumentu: | article |
| ISSN: | 2249-782X 0973-709X |
| DOI: | 10.7860/JCDR/2015/15250.6705 |
| Popis: | Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Alternative names for HI include- keratosis diffusafetalis, ichthyosis congenital, icthyosis fetalis, harlequin fetus and icthyosis congenital gravior. It is an autosomal recessive disorder with the majority of affected individuals being homozygous for mutation in the ABCA 12 gene. This condition presents with a wide range of severity and symptoms. Affected neonates usually do not survive beyond first few days of life. We are presenting prenatal diagnosis of a case of this rare condition. |
| Databáze: | Directory of Open Access Journals |
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