Prenatal diagnosis and ultrasound features of Harlequin Ichthyosis

Abstract

A 30-year-old lady in her first pregnancy was referred for flattened facial profile with suspected thickening of skin on prenatal scan. Anomaly scan at 20 weeks was normal. Ultrasound at 30 weeks of gestation showed retracted fetal lips with exposure of gum and flattened of nose. Harlequin ichthyosis was suspected. The patient had medical induction for preterm prelabour rupture of membranes at 35 weeks of gestation. A baby boy weighing 2405 gram was delivered by Caesarean section for failed induction. The baby suffered from catheter related sepsis, eye infection and joint contractures in the neonatal period. Genetic work up confirmed Harlequin ichthyosis with both parents being heterozygous carriers of ABCA12 gene mutation. Harlequin ichthyosis is one of the three major types of autosomal recessive congenital ichthyosis. Other two are lamellar ichthyosis and congenital ichthyosiform erythroderma. Preimplantation genetic diagnosis is possible following identification of ABCA12 gene. Features on prenatal ultrasound includes flat nose, short neck, thick lips, eclabium, hypertelorism, open eyes ectropion and fixed flexion of extremities. The foot length could be short because of restrictive dermopathy. Use of systemic retinoids accelerates the shedding of hyperkeratoic plates and improves scaling. Together with enhanced moisturisation, electrolyte care, sepsis prevention & physiotherapy, survival of 81% has been reported.