Harlequin-type ichthyosis is caused by a loss-of-function mutation in the ABCA12 gene. This gene is important in regulating protein synthesis for the development of the skin layer.

Mar 4, 2024 · What is harlequin ichthyosis? Harlequin ichthyosis is a rare genetic skin disease that affects newborns. When an infant is born with the condition, their body is covered with …

Nov 16, 2025 · Harlequin ichthyosis is the most severe type of ichthyosis, a family of skin conditions in which skin cells turn over too slowly or too quickly. The result is dry, scaly skin. …

Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants with this condition are born prematurely with very hard, thick skin covering most of their bodies. The skin forms …

Oct 17, 2025 · Harlequin ichthyosis, also known as a harlequin fetus, ichthyosis fetalis, or harlequin baby syndrome, refers to a condition where infants are born with thick, …

What is harlequin ichthyosis? Harlequin ichthyosis is a severe inherited form of ichthyosis that presents at birth as hard, thickened armour-like plates of skin covering the entire body. …

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal...