Harlequin Ichthyosis: report of three cases
Harlequin Icthyosis is the most severe form of congenital Icthyosis. It characteristically presents as large thickened plate like scaly skin lesions over whole body at the time of birth. Few patients survive beyond neonatal period. Mortality is due to respiratory failure, hypo/hyperthermia, infectio...
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| Format: | Article |
| Language: | English |
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Gujarat Adani Institute of Medical Sciences
2022-05-01
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| Series: | GAIMS Journal of Medical Sciences |
| Subjects: | |
| Online Access: | https://gjms.gaims.ac.in/index.php/gjms/article/view/44/45 |
| _version_ | 1797810810577223680 |
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| author | Rekha Thaddanee Gopi Solanki Rushi Thakkar |
| author_facet | Rekha Thaddanee Gopi Solanki Rushi Thakkar |
| author_sort | Rekha Thaddanee |
| collection | DOAJ |
| description | Harlequin Icthyosis is the most severe form of congenital Icthyosis. It characteristically presents as large thickened plate like scaly skin lesions over whole body at the time of birth. Few patients survive beyond neonatal period. Mortality is due to respiratory failure, hypo/hyperthermia, infections, electrolyte imbalance and dehydration. Prevention of Harlequin Icthyosis can be done by prenatal genetic testing and counselling of parents. We are hereby reporting three cases of Harlequin Icthyosis in newborns. |
| first_indexed | 2024-03-13T07:13:22Z |
| format | Article |
| id | doaj.art-d3ad1f53f05040509c4fc0e795fd9f2e |
| institution | Directory Open Access Journal |
| issn | 2583-1763 |
| language | English |
| last_indexed | 2024-03-13T07:13:22Z |
| publishDate | 2022-05-01 |
| publisher | Gujarat Adani Institute of Medical Sciences |
| record_format | Article |
| series | GAIMS Journal of Medical Sciences |
| spelling | doaj.art-d3ad1f53f05040509c4fc0e795fd9f2e2023-06-05T16:08:47ZengGujarat Adani Institute of Medical SciencesGAIMS Journal of Medical Sciences2583-17632022-05-0121252710.5281/zenodo.6560931Harlequin Ichthyosis: report of three casesRekha Thaddanee0https://orcid.org/0000-0001-9503-6388Gopi Solanki1Rushi Thakkar2Department of Pediatrics, Gujarat Adani Institute of Medical Sciences and GK General Hospital, Bhuj, Kachchh, Gujarat-370001Department of Pediatrics, Gujarat Adani Institute of Medical Sciences, Bhuj, Kachchh, GujaratDepartment of Pediatrics, Gujarat Adani Institute of Medical Sciences, Bhuj, Kachchh, GujaratHarlequin Icthyosis is the most severe form of congenital Icthyosis. It characteristically presents as large thickened plate like scaly skin lesions over whole body at the time of birth. Few patients survive beyond neonatal period. Mortality is due to respiratory failure, hypo/hyperthermia, infections, electrolyte imbalance and dehydration. Prevention of Harlequin Icthyosis can be done by prenatal genetic testing and counselling of parents. We are hereby reporting three cases of Harlequin Icthyosis in newborns.https://gjms.gaims.ac.in/index.php/gjms/article/view/44/45abca-12 genecongenital ichthyosisharlequin ichthyosisretinoids |
| spellingShingle | Rekha Thaddanee Gopi Solanki Rushi Thakkar Harlequin Ichthyosis: report of three cases GAIMS Journal of Medical Sciences abca-12 gene congenital ichthyosis harlequin ichthyosis retinoids |
| title | Harlequin Ichthyosis: report of three cases |
| title_full | Harlequin Ichthyosis: report of three cases |
| title_fullStr | Harlequin Ichthyosis: report of three cases |
| title_full_unstemmed | Harlequin Ichthyosis: report of three cases |
| title_short | Harlequin Ichthyosis: report of three cases |
| title_sort | harlequin ichthyosis report of three cases |
| topic | abca-12 gene congenital ichthyosis harlequin ichthyosis retinoids |
| url | https://gjms.gaims.ac.in/index.php/gjms/article/view/44/45 |
| work_keys_str_mv | AT rekhathaddanee harlequinichthyosisreportofthreecases AT gopisolanki harlequinichthyosisreportofthreecases AT rushithakkar harlequinichthyosisreportofthreecases |