Genotypic and Phenotypic Profiles of Babies with Collodion Membrane in a Tertiary Care Center in Riyadh, Saudi Arabia

This study conducted a retrospective analysis of 21 patients diagnosed with Collodion Membrane (CM) at a tertiary care center in Riyadh, Saudi Arabia. CM is a rare neonatal condition characterized by a shiny, parchment-like membrane covering the newborn and is associated with genetic disorders related to cornification. Introduction CM is a membrane resembling a parchment that envelops the body of neonates and is frequently associated with genetic epidermal differentiation disorders (EDD). This study aimed to outline the genetic and clinical attributes of CM in Saudi Arabia. Methods This retrospective study was performed at King Abdulaziz Medical City (KAMC) in Riyadh, Saudi Arabia, with approval from the Institutional Review Board of the King Abdullah International Medical Research Center. Informed consent was waived because of the retrospective nature of the study. The participants were patients diagnosed with CM between January 2001 and December 2024. Study data were retrieved from the BestCare® electronic medical record system through chart review. The data collected included demographic information, consanguinity status, duration of NICU stay, clinical features, treatments administered, genetic analyses, and associated conditions. Results 21 patients, of whom 14 were female (66.6%), participated. Consanguinity was documented in all patients (100%). Erythroderma was the most prevalent sign, observed in 12 patients (57.1%). The most frequently identified pathogenic variant was Ceramide Synthase 3 (𝘊𝘌𝘙𝘚3), detected in seven patients (33.3%), while lamellar ichthyosis was the predominant underlying condition, affecting nine patients (42.8%). Conclusion In this cohort of patients with CM, the identified gene mutations were associated with variations in clinical course and outcomes. 𝘊𝘌𝘙𝘚3 mutations were the most frequently detected and were most commonly observed in patients with lamellar ichthyosis, whereas 𝘛𝘎𝘔1 mutations were associated with more severe phenotypes.