Harlequin ichthyosis (HI) is a rare, severe genetic skin disorder caused by ABCA12 mutations, leading to defective lipid ...

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 ...

A 2-year-old toddler in the U.K. has a rare skin condition that affects just one in 500,000 people. Michal Winter, of Derby, England, was born with thick “plates” of skin on his body due to a ...

A UK baby has been brutally mocked over a rare disease that causes his skin to crack and shed, but his courageous mother is pushing back against bullies. Two-year-old Michal Winter was born with ...

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