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. …

Oct 17, 2025 · Harlequin ichthyosis is an autosomal recessive genetic condition caused by mutations in ABCA12 that causes thick, scaly plaques of skin that cover the infant’s entire face …

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 …

Jun 26, 2025 · The genetic disease harlequin ichthyosis affects the transport of fats within the skin, resulting in hard, scalelike plaques and an array of other symptoms. Babies born with …

Harlequin ichthyosis (HI) is an extremely rare inherited skin condition, present from birth and lasting for the whole of a patient’s life. The condition is considered to be the most serious form …

Harlequin ichthyosis (HI) is a rare skin condition. Infants with HI are born with their bodies covered in hard, thick skin that forms large diamond-shaped plates separated by deep cracks.

Discover everything about Harlequin ichthyosis, a rare genetic skin disorder. Learn its causes, symptoms, treatments, and care strategies to improve quality of life.

Nov 3, 2025 · Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the keratin layer …