From Phenotype to Genotype: A Collodion Baby Case Linked to CERS3 Mutation

Abstract

The term “Collodion baby” is used to describe a newborn appearing with a tight, shiny, and parchment like film covering the entire body. The collodion baby is not a distinct condition but a presentation shared by various disorders. This phenotype may evolve into a range of abnormalities, such as lamellar ichthyosis, Harlequin ichthyosis, non-bullous congenital ichthyosiform erythroderma, and intermediate phenotypes. We report a case of a collodion baby who was found to have a rare mutation in CERS3 gene. Despite the potential for numerous complications arising from impaired skin barrier function, the patient experienced a remarkable recovery following meticulous management and was subsequently discharged home.