HARLEQUIN ICTHYOSIS: A RARE CASE REPORT
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2016, Vol 5, Issue 1
Abstract
Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1:300,000). The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long. We report here a case of a newborn with harlequin ichthyosis of consanguineous parentage who had a history of similar birth previously.
Authors and Affiliations
Pradipprava Paria| Dept of pediatrics, R G Kar Medical College, West Bengal University of Health Sciences, Kolkata, India, Email: drpradip83@gmail.com, Prabodh ch Mondal| Dept of pediatrics, R G Kar Medical College, West Bengal University of Health Sciences, Kolkata, India, Sibnath Gayen| Dept of pediatrics, R G Kar Medical College, West Bengal University of Health Sciences, Kolkata, India, Gobinda Chandra Das| Dept of pediatrics, R G Kar Medical College, West Bengal University of Health Sciences, Kolkata, India
Keywords
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- EP ID EP11575
- DOI 10.5958/2319-5886.2016.00022.9
- Views 294
- Downloads 10
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