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What Is Harlequin Baby Syndrome? Symptoms & Causes

harlequin baby syndrome
The National Organization of Rare Disorders states that harlequin ichthyosis, also known as the harlequin baby syndrome affects 1 in every 500,000 people. While these statistics have a lot of nuances to it, you must know that if your child […]

The National Organization of Rare Disorders states that harlequin ichthyosis, also known as the harlequin baby syndrome affects 1 in every 500,000 people. While these statistics have a lot of nuances to it, you must know that if your child has the Harlequin syndrome, there is nothing you could have done to stop it. 

What is Harlequin Baby Syndrome?

 

harlequin syndrome

    Harlequin Ichthyosis

Harlequin ichthyosis, also known as a harlequin baby syndrome, is a rare, recessive inherited condition that affects the skin. It is characterized by dry and scaly skin that resembles diamond-shaped plates and cover the entire body. Since it covers the whole body, these scales often make it hard for the child to breathe, drink, and eat. It is for this reason that children born with it need to be watched and cared for intensively from birth.

Often acquired from birth, for a child to have the syndrome, they must inherit two recessive genes, one gene per parent who is a carrier and will not show any sign of the disorder. In recent times, the root cause of the condition has been traced to the ABCA12 gene. While in a very serious condition that affects the life of infants born with it, recent advances in the medical field have greatly increased the quality of life of the affected children.

Symptoms

The symptoms of Harlequin syndrome vary from child to child; however, harlequin ichthyosis is the most severe form of the syndrome and tends to be very serious in babies. For this reason, we will be focusing on the symptoms in newborns.

Firstly, infants with this syndrome are often born prematurely, which makes them very susceptible to infections. The infant’s body will be covered by layers of very thick skin that eventually crack and split apart. These layers of thick skin tend to distort the facial features of the child. The skin is often very tight and thus makes the surrounding around the mouth and eyes very taut, thereby causing the infant’s lips and eyelids to show it’s red inner linings by turning them inside out. This tightness also affects the stomach and chest and seriously constrains the capacity for the infant to breathe and eat. Their tight skin might also merge the ears in such a way that it appears to be contorted or inexistent. It also affects their feet and hands, causing them to swell while being small and somewhat bent. 

As earlier noted, the contraction of the infant’s mouth as a result of the skin’s tautness will often time disrupt the child’s feeding process. In other words, the infant will not be able to suck on a teat and as such, might need to be fed through a tube. The skin hinders proper monitoring because of its nature.

It becomes impossible to insert electrodes properly because the infant’s blood vessels are obscured by the layers of skin. However, the baby can still be monitored and given essential nutrients if lines are inserted into the veins and arteries of the umbilical cord.

 

Issues might arise that relate to stabilizing the levels of sodium and other electrolytes in their blood, and they are especially susceptible to have spiked in the level of sodium, otherwise known as hypernatremia. Heated Incubators in environments with high humidity are required to stop further cracking of the infant’s skin and to regulate their body temperature.

It is also necessary to lubricate the infant’s exposed cornea regularly so that they don’t dry out and cause further irritation and infection. Infants with the Harlequin syndrome have to be catered to in a neonatal intensive care unit.

The skin is the largest organ of the body. This means any condition that plagues it will surely affect the overall quality of life of the patient. It creates a lot of issues, some of which are listed below;

  • The infant’s body might have difficulties regulating heat as a result of layered skin
  • Infant might experience hearing loss as a result of merged ears.
  • The infant’s mouth can wide open with its lips taut, making it difficult to breastfeed the child
  • The infant’s eyes stay open as a result of the taut skin.
  • The infant might also have thinning hair or no hair at all as a result of layered skin on their scalp
  • The infant has issues using its limbs as a result of dwelling
  • The infant’s fingers might have difficulty functioning well due to the taut and layered skin around their hands
  • The infant might also fester infections in the cracks on their skin.
  • The infant might suffer low body temperature and dehydration
  • They may also experience a slow growth process.

Diagnosis

Harlequin syndrome is often diagnosed by doctors through genetic testing. However, it is mostly first diagnosed at birth based on how the infant appears. Genetic testing is a process that involves utilizing either chorionic villus sampling or amniocentesis, which are processes that retrieve samples of fetal DNA that are tested for mutations in the ABCA12 gene.

The genetic tests help determine what type of ichthyosis the infant or patient has that will help them manage and treat the condition properly. The test can also be conducted on adults without the condition who want to have children and what to know beforehand if they are carriers before they have children. However, in both cases, the results of the test do not relay any information concerning how severe or mild the condition is, or will be, in the patient.


Concerning mutations that cause the condition, the uniqueness of individuals might limit a conclusive consensus on the state of the tested individual even when there are clear patterns and consistent records in the background of that individual. This means someone that was tested might come up as being negative with no mutations, and the individual might still have a child with the condition.

The lack of a full understanding of the condition, and also the limitations of present medical procedures are some of the many factors that give rise to such issues. Those results will occur from time to time. However, with faith in the positive progressive, groundbreaking discoveries, and steady strides the medical community makes every day, issues like that are bound to become relics of the past.

Cause

Harlequin baby syndrome is a genetic condition that is passed down in an autosomal recessive pattern, which means that you can be a carrier of the disease and not have it. In a scenario where you inherit the abnormal gene from only one parent who is also a carrier, you will not have the disease. However, if both of your parents are carriers and you happen to inherit the genes from both of them, then you will have the disease.

The chance of an infant having the condition when both their parents are carriers is 25%. The figure increases to 50% when the focus shifts to whether there will be a child who will be a carrier like their parents, and the chance that that child will receive normal genes reduces to 25%. It is necessary to note that this applies to every pregnancy, irrespective of the infant’s gender.


What gives rise to Harlequin ichthyosis (Harlequin syndrome) is when the ABCA12, which is responsible for producing a certain kind of protein that is essential for the normal development of skin cells, mutates or changes. Its role in the movement of fats to the epidermis, which in turn creates a healthy skin barrier is very crucial.

Treatment

As earlier noted, medical advances and neonatal facilities have made it possible for infants born with the Harlequin syndrome to survive and have a relatively longer, healthier, and improved life.

The most important step is early treatment and intensive care. The treatment includes;

A newborn infant that has this disease needs neonatal intensive care immediately as well as routines within high humidity and Heated Incubators. They would also require feeding through a tube so that they do not suffer dehydration and malnutrition.

Their eyes also need special care to remain healthy, and this includes protection and consistent lubrication. Retinoids are also necessary for the shedding of layers of scaly, dry skin as well as the consistent application of topical antibiotics and the changing of bandages to ward off infections. In extreme cases, a tube will be inserted in their airways to assist breathing.

As the layers of thick skin begin to crack and peel, antibiotics may be essential to ward off infections. Certain medications like “eterinate” may be administered orally to the child to increase the rate at which the layers of the skin shed. The reality of the situation is that most of the Infants with the condition would need a dedicated care attendant to specifically care for them over the first weeks of their lives.

There was a time when infants with the Harlequin syndrome hardly lived past the first days. Thankfully, times are changing, and medical knowledge of the disease is expanding. Now, there are many children with the condition who are in their twenties and many more in their teenage years. The children who survive this often have dry and red skin with thinned hair and large yet light layers of cakes on their skins.

The mental and intellectual capacity of these children move at a normal pace and is hardly ever directly affected, even though their physical growth is often stunted and affected by the number of calories their skin needs to function. A deliberate skincare routine is necessary for individuals with the syndrome to keep it pliable, moisturized so that it won’t crack and get infected further. 

On average most children with this condition die in the first few days. The ones who lived did so as a result of etretinate and were intensively taken care of. However, it is crucial to note that sometimes, no matter what is done, some infants with the harlequin syndrome will not survive even after intensive, high-quality care has been administered, and this mostly a result of the severity of the disease.

Presently, there is no known cure for the harlequin syndrome, so management of the condition is a crucial element of both the infant’s survival and its initial treatment. Everything comes down to proper care for the skin.

Care

Harlequin syndrome treatment

Treatment of Harlequin Syndrome

Our skin protects us from a lot of harmful elements that we often take for granted. Viruses, bacteria are just some on the long list of things the organ protects us from. Fluid loss regulation and our overall body temperature is also a function of the skin. It is for this reason that it is necessary to keep their skin moist, clean, and soft because when their skin is dry and tight, it will start splitting and become susceptible to bacteria that can cause infections.

To get the best results, always apply moisturizers after the infant has had a bath and while their skin is still damp. The moisturizers should contain any one of the following ingredients; lanolin, petrolatum, ceramides, alpha-hydroxy acids, or cholesterol. Another recommendation is a few drops of glycerin to any moisturizer so that it will keep the skin moist for extended periods. Great care should be taken to help prevent sunburn, yet it might irritate the individual’s skin by keeping them away from extreme temperatures.

If they are attending a school, it is great if the school knows and treatment is administered as needed following your instructions.

Conclusion

The harlequin syndrome (Harlequin ichthyosis) is a very severe condition that constantly demands the protection, careful monitoring, and consistent treatment of the affected. The weight of this can be overwhelming to both the individual living with the condition and the caregiver/parent; however, times are changing, and you need to know that you are not alone.

So, if you think you are alone, think again. There are many individuals like you who are going through this journey of love.

 

Florance Reeves

Florance Reeves is skincare, Wellness and Health expert and professional content writer. She likes to research skincare and wellness products and experiments. She has experience with skincare, wellness and health products for more than 10 years.

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