Harlequin ichthyosis, sometimes called Harlequin baby syndrome or congenital ichthyosis, is a rare condition affecting the skin. It’s a type of ichthyosis, which refers to a group of disorders that cause persistently dry, scaly skin all over the body. The skin of a newborn with Harlequin ichthyosis is covered with thick, diamond-shaped plates that resemble fish scales. On the face, these plates can make it hard to breathe and eat. That’s why newborns with Harlequin ichthyosis need immediate intensive care. Harlequin ichthyosis is a serious condition, but medical advances have greatly improved the outlook for babies born with it.

Babies with Harlequin ichthyosis are usually born prematurely. That means they may have a higher risk of other complications as well. The sign people usually first notice is hard, thick scales all over the body, including the face. The skin is pulled tightly, causing the scales to crack and split open.

Children with Harlequin ichthyosis may experience a delay in physical development. But their mental development is usually on track with other children their age. A child born with Harlequin ichthyosis will likely have red, scaly skin throughout their life.

Harlequin ichthyosis is a genetic condition that’s passed on through autosomal recessive genes. You can be a carrier without actually having the disease. For example, if you inherit the gene from one parent, you’ll be a carrier, but you won’t have Harlequin ichthyosis. But if you inherit the affected gene from both parents, you’ll develop the disease. When both parents are carriers, there’s a 25 percent chance that their child will have the condition. That figure holds true for each pregnancy with two parent carriers.

According to the National Organization of Rare Disorders, Harlequin ichthyosis affects about 1 in every 500,000 people. If you have a child with Harlequin ichthyosis, it’s important to remember that there’s nothing you could’ve done to prevent it. Likewise, there’s nothing you did during pregnancy that caused the condition.

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