Harlequin Ichthyosis

WARNING: The picture provided may discomfort.

You will give a birth soon!

What if, your baby turns out like this?

Have you ever imagined your baby had this kind of disease? 

What would you do? 

Your baby..is actually one of Harlequin Ichthyosis patient.

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Before I go further about the disease, I would like to apologize because I posted out the picture above. I know, the picture had crept you out. But, I am serious. Here, there is no time to joke.

Okay, let's begin. 

The name of the disease is Harlequin Ichthyosis. The idea of the name is originally from how the condition of the skin which is covered with tight and thick hard scale and resembles to armour plate and harlequin suit of jester. 

     

Not only that, the baby also had a really bad face’s condition where the face looks stretched with turned out lips, eyelids and the worst is the ears, hands and feet may hidden behind the scale. For your information, due to this condition, their movement is limit especially at arms and legs part and some of them had an invisible eyes because they are temporarily covered by the swollen eyelids.

According to some research,  "There are approximately five such children born in the UK each year and some may be stillborn."(Ichthyosis Support Group, 2013). We can conclude that the disease is extremely very rare.

Back to 1750, April 5, the history of the disease begin when Reverend Oliver Hart, a cleric from Cherleston, South Carolina wrote in his own diary about the condition. 

Taken from http://archpedi.jamanetwork.com/article.aspx?articleid=1175910

The excerpt was written like this:

"I went to see a most deplorable object of a child, born the night before of one Mary Evans in ‘Chas’town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard and seemed to be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about eight and forty hours, and was alive when I saw it." (Waring, 1932)

Unfortunately, the baby died 48 hours later.

The excerpt written by Reverend described well about the disease. In fact, the baby who had this kind of the disease has a very short lifespan due to limited movement of the chest.

Actually, this disease also can be considered as a genetic disease due to a single important skin gene was mutated. The mutation is in ABCA12, a gene that involved in transportation of lipids (fats) into the spaces between the cells in the skin's uppermost layer and provides instructions for making a ABCA12 protein that is essential for the normal development of skin cells.

 The picture above shows that the lipid was transported into the LG and ABCA12-positive LGs fuse with the cell membrane to secrete lipid into extracellular space to form the intercellular lipid layer. Taken from http://flipper.diff.org/app/items/info/3254

We all have experienced in learning Biology. If you still remember, these lipids provide a benefit as a defend walls against bacteria and infection.

However, based on Genetic Home Research, 2015, due to mutation, Harlequin Ichthyosis can form since it leads to the production of an abnormally small version of the ABCA12 protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.

Taken from http://amaprod.silverchaircdn.com/data/Journals/DERM/4695/dre50009f2.png

Not only that, this disease can be inherited. It will show if an individual receives two recessive gene which is one from each parent. However, the parents who are known as the carrier will show no sign or any symptoms of ichthyosis and they tend to have a one in four risk of any future baby of theirs being similarly affected. 

Thus, as precautions, for those who have a Harlequin history partner or parents-to-be, it would be better if you aware and learn this disease. It is not too late to learn. In fact, it may help you in future, especially for not making both parents to shock.

As I said before, those who are known as carriers of the disease won’t show any symptoms of disease but not for the next generations that inherit the disease.

This is because, first, obviously, the disease cannot be prevented since it happens in skin gene and the second is, if the parent is carriers, how to prevent it when they does not show any symptoms of it?

But, do not give up!

Even it cannot be prevented, but there is a possible way to know either the baby is affected or not.

According to Ichthyosis Support Group (ISG), 2013 “It is possible to diagnose or recognize it early in pregnancy by removing some of the amniotic fluid surrounding the developing fetus to identify if there is a mutation in ABCA12.”

The picture above shows the amniotic fluid removal

Or the parents can check at any medical center by using ultrasound. Ultrasound provides the best result if the baby’s condition is good or not. The parents may try both 2D or 3D. 

Taken from http://www.obgyn.net/sites/default/files/resize/obgyn/2149236-400x271.png

Taken from http://www.ultrasound-images.com/admin/uploads/icthyosis-tongue-2c.jpg.jpg

How to identify the affected baby?

According to some researchers, both parent and doctor may detect it if the fetus has a flat nose. Based on the picture above, the ultrasound showed that the fetus really has flat nose. Not only that, we can see that the tongue is sticking out and the mouth keeps opening.

Another signs that may shows if the baby was affected or not are:- 

1. Small flexed digits of the hands and feet
2. Toes hyperflexed and fixed

This video proves that the baby has small flexed digits of hands and feets. Toes also hyperflexed and fixed

If the finding is positive, it will become a great chance for parents to continue or terminate the pregnancy. But, if possible, keep the pregnancy and try several methods to survive the baby. Right?

What is the treatments?

Back to the past, we do not have any specific treatments and better technology to cure the disease. The aftermath of those lack, these infants rarely survived the first few days of life.

Fortunately, today we are born with technologies surrounding which is make our life easier. In this case of Harlequin Ichthyosis, by using technology provided the affected baby may survive in several struggle months before they adapt well with the disease and survive from any infections.

 It has been reported about a baby in Malawi died because of infections and lack of medical technologies due to Harlequin Ichthyosis on 2013 

Recent advances are such relief for parents who decided to continue the pregnancy and give born the baby. One of the advance is the existence of neonatal care with administration of etretinate.

The neonatal intensive-care unit (NICU)

For your information, neonatal care or known as neonatal intensive-care unit (NICU) is an intensive care unit that is specialized in the care of ill or premature babies. In the NICU, the babies will receive special treatment with the administration of etretinate in order to help harlequin babies survive. 

Not only that, the babies also will receive a treatment in incubator with maintaining heat and humidity to make sure the body temperature is maintained and prevent skin cracks. In addition, since the baby was exposed to the infections, the antibiotic also may be prescribed to prevent infection.

The treatment does not only covered the early stage of the baby development. The treatment will continue until the baby become really stable. This is what we call ongoing treatment for harlequin ichthyosis.

The skin is starting to peels off

Don't worry, with treatment provided, the thick plate-like skin gradually splits and peels off. Not to forget, harlequin ichthyosis requires a daily skin care routine to keep the skin supple and moisturise and stave off dryness, scaling and cracking that can cause infection. Some people will need to spend several hours a day caring for their skin. 

The skin is reddened and the hair is sparse

Be alert that during the teenage years or twenties, most of surviving children will display dry, reddened skin, which covered by large thin scales, and sparse hair. Physical development may be delayed by the enormous calorie needs their skin function demands, but mental and intellectual developments are expected to be normal.

So, keep the worries away!

Now, we have reached the conclusion. Be a mom is absolutely every womens' dreams. It would be a heartbreaking moment if the baby was not what the parents expected-healthy and pretty. As a human being, what else we can do except receive the little angel with a big heart without any hard feeling. 

As parents, it would be good if both of you give courage and support them to have a good live. Show them a very big love without any comparison. Have faith in them, that they are the most precious child in the world.

Even though they were born with slack on their physical, they are still the best gift of God. They are not alien nor abnormal, they are just a human with a 'special' skin that is rare to find. After all, every disease have the cure except death.

For sure, there are families with one or more children with Harlequin Icthyosis who live happy and relatively normal lives. Remember, every cloud has a silver lining. 

Don't worry, you are not alone. 

Smile.