Care of the Newborn with Ichthyosis

This report reviewed the presentation and care of newborns with Mendelian disorders of cornification (ichthyosis; MeDOC), which often appeared unexpectedly in the neonatal period. It highlighted that the neonatal presentation of many MeDOCs differed from their later phenotypes due to skin changes from intrauterine to extrauterine environments. Differentiating ichthyosis subtypes in neonates was challenging, but recognizing certain phenotypic groups could guide initial diagnosis and treatment. These groups included exuberant vernix, collodion baby/harlequin ichthyosis (HI), ichthyosiform erythroderma, blistering, and normal skin/xerosis phenotypes.