Within the little -known illness that causes babies to be born with hard scales

It is one of the rare and devastating genetic disorders.

Harlequin ichthiosis affects only a good number of babies each year in the United States, but the condition is unmistakable, marked by a thick layer of hard -to -birth armor at birth.

Once considered a death sentence, medical advances have helped some children survive adulthood. Here is everything you need to know about strange and severe disease.

What is Harlequin’s ichthyosis?

It is the most severe form of ichyosis, a family of more than 20 skin conditions that interfere in the way the body produces and makes the skin cells, according to the Cleveland clinic.

The bodies of baby born with ichthyosis harlequin are covered with thick and hard skin plates. These plates crack and divide, leaving deep and painful fissures throughout the body.

The extreme narrow skin can force the eyelids and lips to turn inside and restrict the chest, which hinders breathing.

Babies with the condition often seem to have flat noses and missing ears or the missing ears, although their ears are usually present but fused to head by thickened skin. Other symptoms may include auditory problems, limited joint mobility and small hands and swollen feet.

What causes it?

Harlequins ichthiosis is caused by a rare genetic mutation. A baby must inherit two copies of the defective gene, one of each parent, so that the condition is developed.

The involved gene, called CAFA12, is responsible for producing an essential protein for the development of healthy skin, according to Dermnet.

This gene helps move fat to the outermost layer of the skin, creating a protective barrier. When the gene does not work properly, this barrier is altered, causing the serious problems of the skin seen in the ichthyosis of the harlequins.

How rare is it?

Harlequin ichthiosis affects approximately 1 in 500,000 births, or about seven babies a year in the United States, by the National Organization for Rare Diseases.

The condition affects men and women equally and is not more common in any specific racial or ethnic group.

Is it fatal?

In the past, babies with ichthyosis rarely survived passing the newborn period. But today, with advances in medical care, some children live in their adolescence and even adulthood.

However, the condition is still dangerous. The broken skin barrier makes it harder for babies to remain in liquids, regulate body temperature and fight infections, putting them at serious risk of dehydration, sepsis, respiratory failure and other problems that endanger life.

Can you treat?

When a baby is born with Harlequin ichthiosis, he immediately takes the neonatal intensive care unit. There, they remain in a high humidity incubator to help regulate body temperature, according to the Cleveland clinic.

Nurses regularly bathe in the child to soften thick skin and loosen hard stairs and apply moisturizers to help make skin more flexible and prevent dryness.

In severe cases, babies can be given to an oral medicine called ethretinat, which can help decompose thick skin plates and improve symptoms. However, this treatment is used with caution because it can cause severe side effects with long -term use.

If a baby survives the critical stage of the newborn, he will gradually pass the thick plates, but his skin will remain red and scaly.

Life medical care is needed to manage the state.