Dept of pediatrics, R G Kar Medical College, West Bengal University of Health Sciences, Kolkata, India
*Corresponding author: Pradipprava Paria, Dept of pediatrics, R G Kar Medical College, Westbengal University of Health Sciences, Kolkata, India Email: drpradip83@gmail.com
Online published on 1 February, 2016.
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.
Harlequin ichthyosis, ABCA12 gene mutations, bad prognosis
