Baby Suffering From Incurable Rare Skin Disorder Receives Life Changing Treatment

baby with incurable skin disorder

An infant girl in Spain now has the opportunity for a normal future after suffering from a rare skin disorder early in life.

Her doctors finally found a treatment for her incurable condition, and although she is not cured, her case may help doctors treat other people across the country with a similar disorder.

Ichthyosis: A Rare Skin Disorder

Ichthyosis vulgaris (ik-thee-O-sis vul-GAY-ris) is a rare skin disorder in which dead skin cells accumlate in thick, dry scales on the skin’s surface. In most cases, sufferers inherit the condition from one or both of their parents.

In some cases, ichthyosis is present at birth, but more often it develops during early childhood. The cause of the disorder is a genetic mutation. Children who inherit a defective gene from only one parent typically experience a milder form of the disease. Those who inherit two defective genes from both parents, however, typically develop more severe cases.

The symptoms of the rare skin disorder include:

  • Dry, scaly skin
  • Tile-like, small scales
  • Scales colored white, dirty gray or brown — with darker-colored scales typically on darker skin
  • Flaky scalp
  • Deep, painful cracks in your skin

Other complications of the condition may include:

Overheating. Although this is rare, the thicker skin and scales associated with the condition can interfere with sweating. This makes it more difficult for the body to cool itself down.

Excessive sweating. On the other hand, some people with the condition may experience hyperhidrosis or excessive sweating.

Secondary infection. Dry skin that splits or cracks could lead to infection [1].

Read: Ehlers-Danlos Syndrome: The Rare Genetic Disorder Stumping Doctors Everywhere

A Life-Changing Treatment

Doctors treated the baby suffering from this rare skin disorder at the Nino Jesus Hospital in Madrid. When she arrived, she was nine months old but weighed only 8.8 pounds. This is half the weight of the average baby her age.

Her low weight was a result of her ichthyosis, which was preventing her from eating or sleeping properly. The stinging sensations all over her body caused her to cry often.

According to Rafael Correa, one of the doctors who treated her, the baby was missing a protein that is in charge of maintaining her skin’s structure. Because of a genetic mutation, her body did not produce it.

Unfortunately, there is nothing the doctors can do to fix the genetic mutation. They can, however, treat the inflammation process that the disease causes to reduce her symptoms. To do this, the doctors applied psoriasis medication for adults. The medication treated the altered cells that were causing the baby’s symptoms, and thus her malnourishment. 

Since her treatment, the baby has gained weight, and she is now considered “average” for her age. Miraculously, her symptoms have almost disappeared [2].

Still No Cure

Unfortunately, while doctors have managed to treat her symptoms, there is still no cure for ichthyosis. This means that the baby will likely need more injections of the medication periodically. That being said, doctors are hoping that her immune system will adapt over time.

After the success of this treatment, doctors are hoping that they will be able to help others who are suffering from the rare skin disorder. 

Jose Maria Soria de Francisco is the President of the Spanish Association for Ichthyosis. He explained that there are 36 types of ichthyosis, which can make it challenging to treat. Currently, patients with the disease have to spend approximately two hours every day applying cream-based skin treatments in order to find relief from their symptoms.

This treatment can also be expensive. The monthly cost for the treatment can be anywhere from 250 euros to 500 euros (295 to 590 US dollars), which is not covered by the Spanish healthcare system.

Francisco believes that scientists can use the findings from this case to offer treatment to others. There are approximately three hundred people suffering from the condition in Spain. His own daughter has ichthyosis, which gives him even more motivation to find an effective treatment.

“Ichthyosis does not know borders and can affect a rich or a poor family and you never know when it can be you,” he said [2].

Many skin conditions like eczema or psoriasis can be notoriously difficult to treat, and most of them have no cures.

Francisco hopes that scientists will continue to investigate the rare skin disorder, and that they will continue to find solutions to improve sufferers’ quality of life.

Keep Reading: Rare Disorder Can Turn Fingers, Toes White or Blue When it’s Cold

The post Baby Suffering From Incurable Rare Skin Disorder Receives Life Changing Treatment appeared first on The Hearty Soul.

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