HARLEQUIN ICHTHYOSIS: A REVIEW OF DERMATOLOGICAL EMERGENCY

Priyanka Bagewadi*, Varun Wattamwar, Archana, Adarsh G. S., Preeti V. Kulkarni and Venkatrao H. Kulkarni

ABSTRACT

Harlequin ichthyosis (HI) represents the most severe and impactful type of autosomal recessive congenital ichthyoses (ARCIs). This condition arises from mutations in the ABCA12 gene, which disrupts the deposition of intercellular lipids in the stratum corneum, leading to significant defects in the skin barrier. Infants typically present at birth, often prematurely, exhibiting thick, yellow, hyperkeratotic skin plates with pronounced erythematous fissures, resulting in a distinctive facial appearance. Historically, harlequin ichthyosis has been viewed as a fatal condition, with treatment primarily focused on palliative care. However, recent observations indicate that with appropriate neonatal care and the early administration of oral retinoids, survival rates for affected infants are improving. The identification of ABCA12 mutations allows known carriers to pursue preventive preimplantation and prenatal genetic testing. Additionally, experimental research has demonstrated the potential for restoring lipid secretion in lamellar granules through corrective gene therapy. Ongoing studies are essential to explore alternative treatments to retinoids for managing HI.

Keywords: Harlequin ichthyosis, Autosomal recessive congenital ichthyoses (ARCI), Genetic mutation, ABCA12 gene, Keratinization, Harlequin fetus, Armor-like layer of skin, Prenatal diagnosis, NICU.