Harlequin fetus: A case report
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, DNA-based molecular studies on chorionic villus samplin...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2022-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, DNA-based molecular studies on chorionic villus sampling, and amniocentesis has been emphasized. We report a new case of HI in an infant, diagnosed postnatally by correlation of clinical and histopathological features on skin biopsy. The infant succumbed on the second day of birth despite intensive supportive care. A short review of the literature regarding the condition is also presented. |
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| Item Description: | 0377-4929 10.4103/IJPM.IJPM_1150_20 |