Recurrent Harlequin Ichthyosis in a Family: A Case Report

Abstract

Introduction: Harlequin ichthyosis is a severe form of erythrodermic ichthyosis that manifests in a distinctive and distressing appearance at birth. The newborn baby is covered in thick, plate-like scales with distorted surface features, resulting in limited mobility. Fortunately, this condition is rare, with an estimated incidence of approximately 1 in 300,000 births. It is inherited in an autosomal recessive manner and is caused by a mutation in the adenosine triphosphate binding cassette subfamily A member 12 (ABCA12) gene. This mutation affects lipid transport, and the activity of ABCA12 is crucial to produce long-chain ceramides, which are essential for the development of a normal skin barrier. Methods: We present a case report of a newborn who presented with thick, firmly adherent dense plaques covering the entire body, accompanied by deep fissures that extended into the dermis. The facial features included severe ectropion, conjunctival chemosis, eclabium, tethered ears, and a rudimentary nose. In addition, there was flexion contracture of the arms, legs, and digits, along with hypoplastic nails. Results: The baby experienced respiratory difficulty, poor sucking, and a severe cutaneous infection. Unfortunately, the baby’s condition deteriorated and passed away on the 20th day after delivery. Conclusion: Previously considered universally fatal, harlequin ichthyosis now has reported cases of survivors, although it remains a challenging condition. It is crucial to provide parents and family with comprehensive information about the implications of the condition. They should be encouraged to explore all available options and receive psychological support throughout the process. It is essential for the neonatal intensive care unit staff to be trained in providing specialized care for these babies. In addition, parents should be offered the option of antenatal counseling, particularly in cases where there is a previously affected sibling or a history of consanguinity.