WHAT IS HARLEQUIN ICHTHYOSIS?

Harlequin ichthyosis is a rare severe genetic disorder that primarily affects the skin. It is a type of ichthyosis, which refers to a group of disorders that cause dry, scaly skin all over the body.

Patients are diagnosed at birth by being covered with diamond-shaped plates of thick skin that resemble fish scales. The plates can easily crack and split apart. The thick plates can distort facial features and can restrict breathing and eating. This is why newborns with the disorder need immediate intensive care. Adults with Harlequin ichthyosis have extremely dry, thick and scaly skin that grows 10 times faster than the average person, which can cause discomfort.

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Even though Harlequin ichthyosis is a serious condition with no cure that requires a lot of care, medical advances have greatly improved the outlook for babies born with it. Many people with the disorder live on to their teens and twenties as their average life expectancies.

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Stephanie Turner (refer to the image below) was the second oldest person in the United States living with Harlequin ichthyosis, and the first and only person in the world with Harlequin ichthyosis to give birth. She proceeded to have two children, who do not have Harlequin ichthyosis, before she died at the age of 23 in 2017.