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, ...

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 ...

Sjögren-Larsson syndrome (SLS) constitutes a rare genetic disorder manifesting as a complex neurocutaneous condition characterised by congenital ichthyosis, progressive neurological impairment and ...

Congenital ichthyosis disorders constitute a complex, genetically heterogeneous group of hereditary skin conditions marked by aberrant epidermal differentiation and impaired barrier function. These ...