A Neonate with Diamond-Shaped Yellowish Scaling of the Skin: A Case Report on Harlequin Ichthyosis

Abstract

Harlequin Ichthyosis is an extremely rare genetic disorder of the skin with a mortality rate of 44%. It is inherited in an autosomal recessive pattern, pointing towards the role of consanguinity among parents as a contributing factor. We present a unique case of a Harlequin baby whose parents' marriage was nonconsanguineous with no family history of the disease on either side. The antenatal ultrasound scans were normal as well with oligohydramnios as the only prominent feature a week before delivery. Hence, leading to a low suspicion and delayed diagnosis of an already extremely fatal condition. A two-hour-old female baby presented with generalized yellow scales and fissures covering the body in a diamond-like pattern, along with ectropion, eclabium, abnormal digits, clubfeet, and contractures in the extremities. The chest and abdomen were covered with thick scales as well, but the ear and anal canal were patent. Based on these findings, a clinical diagnosis of Harlequin Ichthyosis was made. Supportive management with a multi-disciplinary approach was started, focusing on temperature regulation, nutrition supplementation, eye & skin care, and pain control. However, the next day the patient developed respiratory distress and was put on CPAP. Due to skin hyperkeratinization, intravenous access could not be maintained. Instead, umbilical catheterization was used as a source of nutrition and medicines. Her condition kept deteriorating, leading to tachycardia, tachypnea, and sudden onset of apnea, eventually leading to a need for intubation. Being aware of the associated complications and poor prognosis, the parents decided to withdraw supportive care, leading to death soon after. Since the characteristic findings on antenatal scans are usually not seen until the last trimester, we emphasize the importance of early confirmatory diagnosis via genetic screening, as delayed management leads to even worse outcomes. Additionally, we also recommend counselling the parents for future pregnancies due to the recurrence of the disease.