Inside the little-known disease that causes babies to be born with hard scales
It’s one of the rarest — and most devastating — genetic disorders doctors encounter.Harlequin ichthyosis affects just a handful of newborns each year in the US, but the condition is unmistakable, marked by a thick, armor-like layer of hard scales at birth.Once considered a death sentence, medical advances have helped some children survive into adulthood.Here’s everything you need to know about the strange and severe disease.
It’s the most sever form of ichthyosis, a family of more than 20 skin conditions that interfere with how the body produces and sheds skin cells, according to the Cleveland Clinic.The bodies of babies born with harlequin ichthyosis are covered with plates of hard, thick skin.
These plates crack and split, leaving deep, painful fissures across the body.The extreme tightness of the skin can force the eyelids and lips to turn inside out and constrict the chest, making it difficult to breathe.Babies with the condition often appear to have flat noses and misshapen or missing ears — though the ears are usually present but fused to the head by thickened skin.
Other symptoms may include hearing problems, limited joint mobility and small, swollen hands and feet.Harlequin ichthyosis is caused by a rare genetic mutation.
A baby has to inherit two copies of the faulty gene — one from each parent — for the condition to develop.The gene involved, called ABCA12, is responsible for producing a protein essential for healthy skin development, according to DermNet.This gene helps move fats to the outermost layer of the skin, creating a protective barrier.
When the gene doesn’t work properly, this barrier is disrupted, leading to the severe skin problems seen in harlequin ichthyosis.Harlequin ichthyosis affects about 1 in every 500,000 births, or roughly seven babies a year in the US, per the National Organization for Rare Diseases.The condition affects males and females equally, and isn’t more common in any specific racial or ethnic group.I...