Dr. Sonia Kataria is working as a Specialist in the department of obstetrics and Gynecology, Kasturba Hospital, Delhi University. She is actively involved in teaching postgraduate students of Obst and Gynae. She did her post-graduation from SMS medical college, Jaipur, Rajasthan and has clinical experience of 15 years in this fi eld. Her fi elds of interest include Reproductive medicine and high-risk pregnancies.
We report a case of Harlequin ichthyosis (HI), extremely rare genetic disorder (1 in 300,000) with high (25%) recurrence rate in successive pregnancies. A preterm baby, born out of a consanguineous marriage, had all the features of HI (Figs. 1 , 2 ). The underlying defect involves mutations in ATP binding cassette (ABCA12) gene responsible for transporting lipids to epidermal cells of skin.
Note thick and fi sh-like scaly skin on the entire body separated by deep fi ssures, fl at fontanel, ectropion, fl attened nose, small nostrils, small ears, eclabium with open mouth, absent eyebrows, eyelashes, scalp hair, swollen extremities resulting in limitation of the joint mobility. There is no defi nitive treatment for HI other than supportive care. The newborn expired after 7 h in the neonatal ICU.
