There are several different medical conditions that affect children and a lot of them are present at birth which creates a need for immediate treatment. Many different medical conditions that affect an infant are congenital defects that will never completely go away. Sometimes prenatal testing can pickup some of these congenital defects and sometimes they are not known until the baby is born. One of the many different congenital defects that can inflict a newborn is called harlequin ichthyosis. Harlequin ichthyosis is a rare genetic disorder that can affect a newborn baby and lead to serious medical consequences. A lot of people have seen a picture of a baby who has harlequin ichthyosis, but they often are not told of the serious nature of this genetic defect.
Harlequin ichthyosis is a rare and very severe genetic disorder that affects the skin of a newborn baby. A baby who is born with harlequin ichthyosis will have very hard skin which covers almost their whole body. The harlequin ichthyosis will form large diamond-shaped plates on the skin which are separated by large cracks. The face is one of the main locations that are impacted by the harlequin ichthyosis and there are usually severe facial abnormalities because of this. The eyelids will have a different shape along with the nose, mouth and ears and the skin will look purple or very red in color. A baby who is born with harlequin ichthyosis will have very limited movements in their arms and legs and also their chest. When the chest is restricted in movement, breathing difficulties can occur and respiratory failure could be a life-threatening result.
Our skin acts as a barrier to protect us from the environment and possible outside contaminants, so someone with harlequin ichthyosis does not have this protection. Skin also controls the temperature of the body and helps keep us hydrated by absorbing water. A baby born with harlequin ichthyosis will have a greater chance for developing infections and will often become dehydrated. A newborn born with harlequin ichthyosis will often suffer a serious and potentially life-threatening infection within the first few weeks of life, since this is the time where they are most susceptible to common infections. Since we have increased our technology in the medical profession, the possibility of a newborn to survive that has harlequin ichthyosis is greater than it used to be. The increased technology within the medical equipment has made it easier to provide the treatment and protection a newborn needs if they are born with harlequin ichthyosis.
Although harlequin ichthyosis is a very rare genetic medical condition, we do know the gene that causes it to occur. The ABCA12 gene is the gene responsible for a newborn acquiring harlequin ichthyosis and it happens when a mutation occurs. The ABCA12 gene is the gene that helps make the proteins in our body and transfer the fats to the epidermis. These proteins are vital for skin cell development and without them our skin would be affected greatly, just like we see in harlequin ichthyosis. When a mutation occurs in this gene, the protein will not get made or the protein gets made in a smaller amount that can not transport the fats to the epidermis. Harlequin ichthyosis is an autosomal recessive gene which means that both copies of the gene are mutations. Typically, both the mom and the dad will have one copy of this mutated gene although they probably will not know they are carriers and will not have symptoms. One way to see if your baby might have harlequin ichthyosis is to get a fetal skin biopsy, which will tell the doctor if a genetic mutation is present. Sometimes a baby might be born with harlequin ichthyosis if the family has a severe skin condition in their family. Having a family who has severe or serious skin conditions could make your child at a higher risk for developing harlequin ichthyosis.
A baby born with harlequin ichthyosis will have severely deformed facial features and they are very sensitive. The ears might not be present or they might be deformed, the eyelids are not normal which can leave the eyes open and susceptible to traumatic injury. A baby born with harlequin ichthyosis will often be bleeding at birth and they will have dry or cracked skin on most of their body. The lips are often dry and fixed in a specific manner so it looks like they have clown makeup on. Arms, fingers and legs are also deformed on a baby with harlequin ichthyosis and they often are much shorter than average. The arms, legs and fingers might also be fixed in a manner where they can not be bent or moved which causes severe atrophy and arthritis. All of these physical malformations make developing a serious infection very high and can lead to extreme pain throughout the body. When you first look at a baby who has harlequin ichthyosis, you will be just shocked at their physical appearance because it just does not look real. It is unknown whether or not the baby is suffering or in pain but just by looking at the baby you can not help but feel empathy toward her or him.
Most children who are born with harlequin ichthyosis do not usually live past 10 years of age and a lot of the children die within a couple hours after birth. The main reason why a person born with harlequin ichthyosis will die is due to systematic infections. Any type of small infection can develop into a life-threatening infection for someone diagnosed with harlequin ichthyosis. A child who has harlequin ichthyosis will often have to have medical care everyday to help protect the cracking and dryness on the skin and they can not do most things own their own. When you look at a baby with harlequin ichthyosis, you have to remember that the barrier of skin to protect them is gone, making them highly vulnerable to outside influences.
I have seen the picture of the baby who suffered from harlequin ichthyosis on the Internet for many years and it is very sad to think people look at this for amusement. Children are often born with congenital defects that they can not help and harlequin ichthyosis is just one of them. Having a baby with harlequin ichthyosis you could debate whether or not it was the right thing to do, but most importantly the baby is still breathing and living. We think of harlequin ichthyosis as a rare medical condition because it is not known how many actually suffer from it since most of them die within a few hours. Having a baby with harlequin ichthyosis basically means you are going to be burying it within a few days at the most. The only true way to prevent your baby from being born with harlequin ichthyosis is to get the fetal skin biopsy so you know your baby is okay. Deciding what to do if you find out your baby will be born with harlequin ichthyosis is another situation, but you need to do what is right for you. Finding out your baby will be born with harlequin ichthyosis is a very hard thing to come to terms with, because it is often a fatal medical condition. You should always talk to your doctor if you suspect harlequin ichthyosis might affect your unborn child so you can decide the right thing to do. There are no medical treatments for a baby born with harlequin ichthyosis, just comforting them and trying to stop the dry skin is the only things they can do. Within a few years, there might be a better treatment option available for harlequin ichthyosis which would help lower the known fatalities. So next time you see a picture of a baby born with harlequin ichthyosis, remember that this is a life-threatening skin condition and that it means the baby was born without skin.
National Institute of Health, “Harlequin Ichthyosis”
Doctors Lounge Staff, “Harlequin type Ichthyosis”, Doctors Lounge