Collodion to Clarity: Reversible Neonatal Ectropion in CERS3-Associated Ichthyosis

Abstract

Autosomal Recessive Congenital Ichthyosis (ARCI) is a heterogeneous group of inherited disorders of cornification, with CERS3 mutations being a rare cause that typically produces a lamellar ichthyosis–like phenotype due to defective synthesis of very long-chain ceramides essential for epidermal barrier function. We report a preterm male neonate who presented at birth as a collodion baby with generalized desquamation, eclabium, and severe bilateral ectropion. Ocular examination revealed significant eversion of eyelid with preserved corneal transparency. Whole exome sequencing identified a homozygous frameshift mutation in CERS3 (c.990_991del, p.Phe331HisfsTer10), confirming ARCI9. The newborn was managed with intensive neonatal care, intensive moisturising skin, antibiotics, and frequent ocular lubrication with no surgical intervention. Progressive clinical improvement was observed, with complete resolution of ectropion and normalisation of ocular findings by day 30 of life. This case demonstrates the reversible nature of neonatal ectropion in CERS3-associated ichthyosis and emphasises the importance of early genetic diagnosis and prompt, multidisciplinary management to avoid vision threatening complications and achieve favourable outcomes.