Cross-Sectional Survey on Disease Severity in Japanese Patients with Harlequin Ichthyosis/Ichthyosis: Syndromic Forms and Quality-of-Life Analysis in a Subgroup

Congenital ichthyoses (CIs) are a group of genetic disorders caused by mutations in genes involved in skin barrier functions. Patients with CI clinically suffer from persistent scaling and hyperkeratosis that are often associated with erythema from birth or the neonatal period.