(2013) Harlequin ichthyosis: Case report. Journal of Research in Medical Sciences. pp. 1004-1005. ISSN 17351995 (ISSN)
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Abstract
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with HI and adds to the collective knowledge of this rare skin disorder. HI has been linked to mutation in the ABCA12 gene; therefore, genetic counseling and mutation screening of this gene should be considered.
Item Type: | Article |
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Keywords: | Abca12 gene mutation Autosomal recessive Skin abnormalities adult article bradycardia bradypnea case report cyanosis ectropion female fontanel genetic counseling gestational age harlequin ichthyosis human ichthyosis newborn newborn intensive care |
Divisions: | |
Page Range: | pp. 1004-1005 |
Journal or Publication Title: | Journal of Research in Medical Sciences |
Volume: | 18 |
Number: | 11 |
ISSN: | 17351995 (ISSN) |
Depositing User: | مهندس مهدی شریفی |
URI: | http://eprints.zbmu.ac.ir/id/eprint/3264 |
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