What are the Symptoms of ABCA12-related Disorders?
The symptoms vary depending on the type of ichthyosis. In Harlequin ichthyosis, newborns exhibit thick, plate-like scales and severe constriction of the skin. This can lead to respiratory difficulties, feeding problems, and increased risk of infection. In milder forms like lamellar ichthyosis and CIE, symptoms include dry, scaly skin, redness, and discomfort.
