What is Harlequin Ichthyosis? It is one of the rarest congenital skin diseases affecting the skin of every part of the body, including the face, head, hands, legs, stomach, back, and so on. It is characterized by a condition in which an infant takes birth with dry, scaly, thickened, and tightened skin. In most cases, the skin of the infant is found split and burst with diamond, square, and rectangular-shaped plates all over it. It replicates the fish scales that can be removed from the body.

It is an ichthyosis disease that refers to a group of skin diseases and disorders involving scaly and dry skin. This needs immediate and intensive care & treatment as it is an extremely severe condition and a number of other health complications are associated with it. 

Harlequin Ichthyosis disease is also referred to as a harlequin baby and congenital ichthyosis. According to the data available across healthcare, Harlequin Ichthyosis is found in one in five hundred thousand people which means every 1 in 5,000,000 births is affected by this disease. To continue learning more about what is harlequin ichthyosis, keep going through this piece of reading.

Complications Associated With Harlequin Ichthyosis

What is Harlequin Ichthyosis and what complications are associated with this disease? Countless complications are associated with Harlequin Ichthyosis. Since infants with Harlequin Ichthyosis take birth with almost their entire body covered with thick, tight, and scaly skin, they struggle in making movements. From nose to toe, they face difficulty and sometimes pain in moving their body parts. Their arms and legs movements are limited in most cases. 

Additionally, the movements infants make can cause their skin to get split and crack even deeper. Breathing difficulties and respiratory failures are also associated with this Ichthyosis disease. This is a movement-based complication that an infant with Harlequin Ichthyosis faces, but there are many more complications associated with it. For example, the infant can face difficulty in drinking milk. This is because the babies need to use their jaws, lips, and cheeks movement to perform this act which will obviously be difficult and painful for babies with Harlequin Ichthyosis.

Apart from this, Harlequin Ichthyosis affects the features of the infant. The nose, lips, eyes, eyelids, ears, mouth, and other features of the infant might not develop in the correct way. This congenital malformation can badly affect the body shape of infants. 

Other major complications associated with this disease, include:

• Dehydration (loss of water)
• Risk of life-threatening infections
• Difficulty in maintaining body temperature 
• Redness in the skin
• Difficulty in performing essential activities (for kids, teens, and adults)
• Hypernatremia (high volume of sodium in the blood)
• Nursing difficulties
• Swollen hands

Learn what is Harlequin Ichthyosis, its symptoms, and treatment options in the following sections.

What is Harlequin Ichthyosis: Symptoms of Harlequin Ichthyosis

Thick, tight, scaly, split, and deep cracked skin covering the entire body of the infant is the foremost noticeable symptom of Harlequin Ichthyosis. However, these symptoms can change with age and are severe in infants. 

Children with Harlequin Ichthyosis can experience the following symptoms throughout their life:

• Red and scaly skin
• Sparse hair 
• Malformed facial features as a result of stretched skin
• Difficulty in hearing as a result of a build-up of scales in the ears
• Overheating 
• Skin infections recurring 
• Difficulty in finger movements

Causes of Harlequin Ichthyosis

What is Harlequin Ichthyosis and its causes? The causes of Harlequin Ichthyosis are complex to understand. It is associated with the gene ABCA12 which is responsible for giving instructions for the making of protein essential for skin to develop normally. This gene also plays an important role in transporting the fat to most layers of skin. Harlequin Ichthyosis happens when mutations to the ABCA12 gene occur. 

This rarest disease is inherited in the form and pattern of autosomal recessive. And this occurs when an infant receives an abnormal gene from both of its parents. In case an infant receives one normal and one abnormal gene from its parents, the infant can become a carrier but the infant will remain free of the disease. 

What is Harlequin Ichthyosis: Possibility of Occurrence

What is Harlequin Ichthyosis and how much the possibility of occurrence of it is? Infants in the womb have a 25% possibility of occurring Harlequin Ichthyosis if both of their parents are carriers as in this case, they have a higher risk of receiving abnormal genes from each parent while there is a 50% possibility the infant is a carrier similar to parents. And there is a 25% chance the infant receives normal genes from both of its parents. These risk percentages and the possibility of occurrence of the disease are the same in both males and females. 

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Treatments For Harlequin Ichthyosis

These days, with enhanced neonatal technologies, infants, children, and adults with Harlequin Ichthyosis have a better chance to have a longer and healthier life. But this is only possible if the patient gets the treatment and essential medications in the initial stage. 

Treatment at the Initial Stage

A baby born with Harlequin Ichthyosis disease requires early intensive treatment and care, or else he/she will be unable to survive longer. The initial treatment includes:

• Keeping the baby in an incubator with high temperature and humidity.
• Applying retinoids on the entire skin to remove the scaly and hard skin.
• Using topical antibiotics and covering the body with bandages to prevent any kind of infection.
• Utilizing tube feeding for giving nutrition to the baby and keeping its body hydrated.
• Fixing a tube in the airway to help the baby in breathing.
• Keeping the eyes lubricated and protected using eye protection devices.

Apart from this, patients with Harlequin Ichthyosis require good skincare because the skin has a great role to play in preventing infection, fluid loss, and protecting the body from bacteria and harmful elements. Keeping the skin clean and moist is vital. For that, health experts recommend using moisturizer-rich skin products. 

What is Harlequin Ichthyosis: Final Thought

What is Harlequin Ichthyosis? The final thought about this disease is that this is a congenital skin disease that needs early intensive care and attention. It is not curable, but appropriate care and special attention to the skin can help patients to have a longer and healthier life. In the end, we hope you have got enough of what is harlequin ichthyosis. To know more about that rare congenital disease, you must seek for credible sources.