Suffer the Little Children – Harlequin Ichthyosis

Suffer the Little Children - Harlequin Ichthyosis

Imagine all of the hopes and dreams that an expecting mother has. The joy that she feels about having her little boy or girl. A first child or perhaps a sibling for her previous offspring. The money in savings, a room of the house completely redone in expectation of baby. And then nature plays a cruel joke on that mother by turning her infant child into a monstrous red-eyed lizard. If she’s lucky, it will be born dead. If not, she will get to watch it die from massive infection in an incubator. Hello, friends. This is Harlequin Ichthyosis, the most horrific skin disorder on the planet, in this writer’s humble opinion.

But Jesus said, Suffer little children, and forbid them not, to come unto me: for of such is the kingdom of heaven.

-Matthew 19:14

Harlequin Ichthyosis is the most severe form of a family of related skin disorders. It causes the neonatal skin to develop into thick, hardened plates that restrict movement as well as causing the horrifying deformities to the eyes and mouth. The tightening of the skin around these areas basically turns the eyelids and lips inside out, giving them that surreal red-eyed appearance and causing the signature smile and that is where the name “harlequin” comes from, referring to old school jesters because of the facial expression and diamond and checkered patterns of the skin. The large gaps between the plates limit the skins ability to prevent foreign bodies from entering. It is not the severe deformities that kills these newborns, it is dehydration and massive infection.

In 2005, the cause of the disorder was traced to mutation in the ABCA12 gene which regulates how fats are distributed across cell membranes which plays a central role in the extreme hardening and cracking of the skin. One or both parents will carry the mutation without showing symptoms themselves. There is no cure.

Now before you rush out to get a hysterectomy, know that this is an extremely rare disorder and although in the past it was 100% fatal, modern medicine has been able to detect these abnormalities and begin treatment with retinoid therapy in utero which essentially utilizes vitamin A to aid the neonatal skin. The baby will still be born with the disorder but it’s chances of survival will be greatly improved, as illustrated in the last two photos. These girls have a more moderate form of ichthyosis as opposed to the more terrible harlequin variant. These two, receiving proper skin treatment, may go on to live a relatively normal life. So there is hope.