This blog contains information about Harlequin Ichthyosis. In the start, it defines the disease in detail. Then it explains Harlequin Infants and Survival of Harlequin Babies. It also mentions the Life-expectancy of Harlequin baby. Then it elaborates the main Causes of Harlequin Ichthyosis. It also shines a light on its Symptoms. In the end, it describes the Treatment of Harlequin Ichthyosis. This blog contains Causes, Symptoms and Treatment of Harlequin Ichthyosis.

Harlequin Ichthyosis, Harlequin Infant Life, Survival, Life-expectancy, Causes, Symptoms and Treatment.

What is Harlequin ichthyosis?

Harlequin ichthyosis is a severe genetic disorder that affects the skin. Infants exposed to this condition are born prematurely with very hard, thick skin covering most of their bodies.

The skin forms large, diamond-shaped plates that are divided by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and restrict movement of the arms and legs.

The skin normally forms a barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it difficult for affected infants to control water loss, regulate their body temperature, and fight infections.

Restricted movement of the chest can lead to breathing difficulties. These plates fall off over several weeks. Other complications can include premature birth, infection, problems with body temperature, and dehydration.

Harlequin Infants:

Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life.

It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, babies with this disorder now have a better chance of living into childhood and early adulthood.

Can a Harlequin Baby survive?

In the past, infants both with this condition rarely survived more than a few days, because there were no advancement in medication and people gave up on rare diseases and conditions. But with advances in neonatal care and use of oral retinoids, it is possible for harlequin infants to survive. Several children have lived to their teenage years, and several more have lived into their twenties. The expectancy is increasing every year with latest treatments and medications.

What is Life Expectancy of Harlequin Ichthyosis?

Most affected babies do not survive beyond the first week of life. It has been reported that the survival rate varies from 10 months to 25 years with supportive treatment depending on the severity of the condition. As it is a rare condition, its treatment is difficult and expensive. But in past few years there is an improvement in life expectancy of Harlequin Ichthyosis cure.

Causes of Harlequin Ichthyosis:

Harlequin Ichthyosis is caused by mutation in ABCA12 gene, that is responsible for giving instructions for making protein that is necessary for making skin cells. This becomes the reason of getting deep cracks on the skin or babies and it is painful and can be fatal. This mutation cause the skin barrier disrupted. This condition is basically genetically transmitted to the baby due to gene mutation. If a mother is a carrier, there is a 50% chance of the baby of getting Harlequin Ichthyosis.

Symptoms of Harlequin Ichthyosis:

Following are the symptoms of Harlequin Ichthyosis:

• Thick plate-like scales on the skin.

• Tightness of skin pulls around the eyes and mouth.

• The chest and abdomen are restricted by tightness. (Breathing and eating difficulty)

• Their hands and feet are swollen and partially flexed.

• Premature Birth. (In most cases)

These are the main symptoms that can be observed in the new born baby that are exposed to Harlequin Ichthyosis. This condition can also cause complications in early delivery.

Treatment of Harlequin Ichthyosis:

Following are some of the treatment options for Harlequin babies:

Oral Retinoids:

Oral retinoids are a group of medications related to vitamin A. These drugs are used to control the symptoms of different skin conditions. This helps in recovery and stopping of the symptoms caused by any skin condition.

Antibiotic Treatment:

In the second stage, the thick scales of the skin starts to split and peel gradually over several weeks. This condition can easily be exposed to infections. To avoid infections and to prevent worst symptoms, antibiotic treatment is must to apply.

Skin Softening Moisturizers:

The scales on the skin may become more painful and critical in the condition of dryness. This dryness can be treated with prescribes moisturizer to keep the body of the patient hydrated and prevent excessive pain and dryness.

Can Harlequin be cured?

There is no cure for harlequin ichthyosis. Doctors focus their treatment on protecting the skin and preventing infections and other complications. Harlequin babies require Neonatal intensive care unit (NICU) care. They may need tube feeding to support nutrition and prevent dehydration. This condition is really difficult to treat because we cannot give all types of medication and moisturizers to the new born baby. In this way it is called uncurable. This blog provide information about Causes, Symptoms and Treatment of Harlequin Ichthyosis.

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