Harlequin ichthyosis – a disturbing disorder

Abstract

Harlequin ichthyosis is a severe variant of autosomal recessive congenital ichthyosis resulting from loss-of-function mutations in the ABCA12 gene on chromosome 2q35, a transporter protein responsible for the formation and function of the lamellar granules. The estimated prevalence is < 1/1,000,000. A day-old male baby, born to non-consanguineously married couple presented to the NICU with a rigid, taut, yellow brown, adherent skin. The prenatal and natal history was uneventful with normal anomaly scan and growth scans. It was a normal vaginal delivery with a birth weight of 2.2kg, normal cry and normal APGAR score. The first two siblings did not have similar complaints. On examination, deep fissures were noted at the site of stress, flexors and over the scalp. There was ectropion, eclabium, tethering of nose and ears. The hands and feet appeared edematous with restricted movements due to contractures. The conjunctiva appeared edematous. The baby appeared as if it was encased in a coat of armour. On day 2 of examination, there was mild decrease in the tautness of skin. Restrictive dermopathy and stiff skin syndrome were considered for differential diagnosis. But there was no associated skeletal abnormality and the clinical features distinctive of Harlequin ichthyosis. The baby was started on oral isotretinoin 1mg/kg along with adequate moisturizers for topical application. Genetic counselling was done to the parents and the complication of the disease explained. This case is presented for its rarity.