RECURRENT FOETAL HARLEQUIN ICHTHYOSIS: A RARE CASE REPORT

Dr. Twinkle Sood*

ABSTRACT

Harlequin ichthyosis is a rare and most severe form of congenital ichthyosis characterised by generalised thickening and splitting of the skin. It is a genetic disorder with autosomal recessive inheritance. Incidence of the disease is 1 in 3,00,000 live births and the foetuses presenting with this disorder have a very high mortality rate. It is most commonly seen in consanguineous marriages and is associated with ABCA 12 (adenosine triphosphate-binding cassette A12), gene mutation. Hence genetic screening, prenatal diagnostic testing and counselling of susceptible parents must be considered. I report a case of 35 year G2P1+0(l0) at 36 weeks of gestation with breech presentation and previous history of lower segment caesarean section (LSCS), who presented to the emergency in labor. It was an unbooked case. Emergency LSCS was done with extraction of a male child with birth weight 3kg with thick scales present all over the body with APGAR of 4/6 at 1 minute and 5 minutes respectively. Clinical diagnosis of harlequin ichthyosis was made and the baby was managed in neonatal ICU but died on 3rd day of life. This case report highlights the presentation of ichthyosis in a neonate, associated risks, complications and its management.

Keywords: Harlequin ichthyosis, genetic disorder, skin thickening, consanguineous.