Harlequin Ichthyosis

What is harlequin ichthyosis?

Harlequin ichthyosis is a rare genetic skin disease that affects newborns. When an infant is born with the condition, their body is covered with plates of hard, thick skin that crack and split apart. These diamond-shaped plates can pull at and distort your baby’s facial features, affecting the shape of their ears, eyelids, nose and mouth. The disease can also limit the movements of your baby’s arms and legs and restrict their eating and breathing.

Your skin ordinarily forms a protective wall or barrier between your body and its environment. When your baby has harlequin ichthyosis, their skin abnormalities disrupt this barrier. This can make it hard for your baby to:

• Control water loss.
• Regulate their body temperature.
• Fight infections.

Your baby may experience dehydration and develop life-threatening infections in their first few weeks of life. After the newborn period, the plates shed, and your baby’s skin develops widespread redness and scales.

Harlequin ichthyosis is the most severe kind of ichthyosis, a skin disease with more than 20 types, including lamellar ichthyosis and ichthyosis vulgaris. In the past, it was rare for babies with harlequin ichthyosis to survive the newborn period. But now, with improved treatment options and intensive medical care, babies have a better chance of living into childhood and reaching adulthood.

Other names for harlequin ichthyosis include:

• Autosomal recessive congenital ichthyosis — harlequin type ichthyosis.
• Harlequin baby syndrome.
• Harlequin fetus.
• Ichthyosis congenita.
• Ichthyosis fetalis.

How common is harlequin ichthyosis?

Harlequin ichthyosis affects about 1 in every 300,000 to 500,000 babies born in the United States.

What are the symptoms of harlequin ichthyosis?

Babies with harlequin ichthyosis are typically born prematurely. When they’re born, their bodies are covered in thick, platelike scales of skin. Skin tightness causes the scales to form deep cracks (fissures). The tightness also pulls the skin around your baby’s eyes and mouth, causing their eyelids and lips to turn inside out. It also pulls on the skin of your baby’s chest and abdomen, making it difficult to breathe and eat. Other symptoms may include:

• Flat nose.
• Ears fused to their head.
• Small, swollen hands and feet.
• Abnormal hearing.
• Frequent respiratory infections.
• Decreased joint mobility.
• Low body temperature.

What causes harlequin ichthyosis?

A genetic variant (genetic mutation) in the ABCA12 gene causes harlequin ichthyosis. The ABCA12 gene gives your body instructions for making a protein that’s vital for the development of healthy skin cells. This protein has an important role in transporting fats (lipids) to the outermost layer of your skin (epidermis), producing a barrier.

If you have harlequin ichthyosis, you have abnormally small amounts of the ABCA12 protein or none at all. This disrupts the normal development of your epidermis, which leads to the severe symptoms that the condition produces.

You inherit harlequin ichthyosis in an autosomal recessive manner, which means you receive both copies of the affected gene — one from each parent. The parents are both carriers of the mutated gene but typically don’t show symptoms of the condition.

What are the complications of harlequin ichthyosis?

Complications of harlequin ichthyosis may range in severity and include:

• Poor hair growth.
• Nail deformities.
• Itchiness.
• Heat and cold intolerance.
• Recurrent skin infections.
• Electrolyte imbalances.
• Hardening and tightening of muscles, tendons, skin and other tissues.
• Respiratory failure.
• Sudden and severe sepsis.

How is harlequin ichthyosis diagnosed?

Your baby’s healthcare provider can diagnose harlequin ichthyosis at birth based on their physical appearance. If you have a biological family history of the condition, your provider may recommend prenatal genetic testing to look for mutations in the ABCA12 gene. In addition, providers can sometimes see the features of harlequin ichthyosis on ultrasound during your second and third trimester.

How is harlequin ichthyosis treated?

Your baby will go to the neonatal intensive care unit (NICU) as soon as they’re born. There, your baby will stay in a high-humidity incubator to help regulate their body temperature. Nurses will care for your baby by:

• Feeding them frequently.
• Bathing them often to soften their skin and loosen skin scales.
• Rubbing their skin gently with a pumice stone, rough-textured sponge or loofah to remove scales.
• Applying moisturizers to their skin to reduce dryness and help the skin be more pliable and flexible.

If your baby has a severe case of harlequin ichthyosis, they may receive treatment with an oral retinoid called etretinate. This drug can help remove the thick, platelike scales covering their skin. It can also help reverse issues such as constricting fingers, compromised blood flow, tightened chest making it difficult to breathe and tightened face making it impossible to feed. Your baby’s healthcare provider will only use oral retinoids if your baby has severe symptoms because long-term use can cause serious adverse side effects.

Once the thick, platelike skin begins to split and peel off, your baby may be able to go home. But they’ll require continued medical care. Harlequin ichthyosis treatment involves a team of healthcare providers. This team may include:

• Neonatologists.
• Dermatologists.
• Plastic surgeons.
• Geneticists.
• Ophthalmologists.
• Otolaryngologists.
• Physical therapists.
• Orthopedists.
• Nutritionists.

This team of providers will work with your child throughout their life to provide the appropriate treatment for their condition.

Can harlequin ichthyosis be prevented?

You can’t prevent harlequin ichthyosis because it’s a genetic condition. If you have a biological family history of the condition, you may want to talk to your healthcare provider about genetic testing or genetic counseling.

What can I expect if my child has harlequin ichthyosis?

Harlequin ichthyosis is a long-term (chronic) condition that’ll need lifetime care. It’s important to find a dermatologist who specializes in the condition so that your child can get the treatment they need throughout their life. You should also develop a daily routine to help your child control their skin issues (scales, cracking, itching), which will continue throughout their life.

In addition to skin issues, your child may develop stiff knuckles and thick fingers, which can make it hard for them to grip objects. They may also have stiff ankles and knees, making it difficult to walk. Your child may experience a delay in their physical growth and development. But their mental development should be typical.

What’s the outlook for this condition?

Despite advances in the treatment of harlequin ichthyosis, many infants still die from the condition. In one study, 44% of babies born with the condition died. In the first three months of life, the most common causes of death were sepsis, respiratory failure or a combination of both.

But early introduction of oral retinoids may help increase the survival rate. In the same study, 83% of babies that were treated with oral retinoids survived.

How do I take care of my child?

Some ways to help take care of your child include:

• Learning about your child’s condition. Become an expert on your child’s condition by reading reputable sources of information.
• Keeping your child as healthy as possible. Provide nutritious food, make sure they get enough exercise and keep up with their regular checkups.
• Finding what works for your child. Every child is unique, and what works for one person may not work for another. Find a daily skin care routine that fits your child’s needs.
• Think about your child’s environment. Forced air heat and/or cold and dry temperatures can make your child’s skin more brittle and can affect how they feel overall.
• Have a personal skin care kit. Put together and carry a bag containing all of your child’s necessary skin care items, such as sunscreen, ointment or pain relievers.
• Let your child take charge. Eventually, your child will need to learn how to care for themselves. Give your child some responsibility over their skin care needs.
• Infant care. Skin-to-skin care with your baby and breastfeeding (chestfeeding) is encouraged.

What questions should I ask my child’s healthcare provider?

If your child has harlequin ichthyosis, you probably have lots of questions. Some that you may want to ask your provider include:

• Is harlequin ichthyosis painful?
• What makes harlequin ichthyosis more severe than other kinds of ichthyosis?
• What treatments do you recommend for my child?
• How can I help my child live a normal life?
• What triggers should my child avoid that could make their condition worse?
• Should my child stay out of the sun?
• What complications or other health conditions should I watch out for?
• Where can I find a good support network?

A note from Cleveland Clinic

It can be scary and devastating to find out your baby has harlequin ichthyosis. You may feel alone and not be sure where to turn. It’s important to find healthcare providers who know a lot about the condition. They can help your child manage their condition, and they can help you find the help and support you need. Talking with parents of other children who have the condition can help you feel empowered. By sharing stories and tips, you can find ways to help your child thrive. It’s not easy to watch your child live with a rare skin disease, but many children have gone on to lead happy lives.