Add Yahoo as a preferred source to see more of our stories on Google. Most people with harlequin ichthyosis carry a genetic mutation that causes cells to make ABCA12 proteins that are too short and ...

Harlequin ichthyosis (HI) is a rare, severe genetic skin disorder caused by ABCA12 mutations, leading to defective lipid transport and loss of skin barrier function. Infants present with thick, ...

Disease name: Harlequin ichthyosis, also called ichthyosis fetalis and harlequin baby syndrome Affected populations: This genetic condition affects an estimated 1 in 300,000 live births globally. In ...