Do You Know What A Harlequin Is Harlequin Ichthyosis: Definition, Symptoms, Treatment, and Prognosis

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Do You Know What A Harlequin Is

We include products we think are useful for our readers. If you buy through links on this page, we may earn a small commission. Here’s our process.Harlequin ichthyosis, sometimes called Harlequin baby syndrome or congenital ichthyosis, is a rare condition affecting the skin. It’s a type of ichthyosis, which refers to a group of disorders that cause persistently dry, scaly skin all over the body.The skin of a newborn with Harlequin ichthyosis is covered with thick, diamond-shaped plates that resemble fish scales. On the face, these plates can make it hard to breathe and eat. That’s why newborns with Harlequin ichthyosis need immediate intensive care.Harlequin ichthyosis is a serious condition, but medical advances have greatly improved the outlook for babies born with it.Read on to learn more about Harlequin ichthyosis, including treatment options and where to find support if you’re the parent of a child with this condition.The symptoms of Harlequin ichthyosis change with age and tend to be more severe in infants.In newbornsBabies with Harlequin ichthyosis are usually born prematurely. That means they may have a higher risk of other complications as well.The sign people usually first notice is hard, thick scales all over the body, including the face. The skin is pulled tightly, causing the scales to crack and split open. This hardened skin can cause a number of serious issues, including:eyelids turning inside outeyes not closinglips pulled tight, leaving the mouth open and making nursing difficultears fused to the headsmall, swollen hands and feetlimited mobility in arms and legsnursing difficultiesbreathing problems due to tight chest skininfections in deep skin cracksdehydrationlow body temperaturehigh sodium in the blood, known as hypernatremiaIn older children and adultsChildren with Harlequin ichthyosis may experience a delay in physical development. But their mental development is usually on track with other children their age.A child born with Harlequin ichthyosis will likely have red, scaly skin throughout their life.They may also have:sparse or thin hair as a result of scales on the scalpunusual facial features due to stretched skin reduced hearing from a buildup of scales in the earsproblems with finger movement due to tight skinthick fingernailsrecurring skin infectionsoverheating due to scales that interfere with sweatingHarlequin ichthyosis looks different in newborns than it does in toddlers. The gallery below shows how it appears in both age groups. Harlequin ichthyosis is a genetic condition that’s passed on through autosomal recessive genes. You can be a carrier without actually having the disease. For example, if you inherit the gene from one parent, you’ll be a carrier, but you won’t have Harlequin ichthyosis.But if you inherit the affected gene from both parents, you’ll develop the disease. When both parents are carriers, there’s a 25 percent chance that their child will have the condition. That figure holds true for each pregnancy with two parent carriers.According to the National Organization of Rare Disorders, Harlequin ichthyosis affects about 1 in every 500,000 people.If you have a child with Harlequin ichthyosis, it’s important to remember that there’s nothing you could’ve done to prevent it. Likewise, there’s nothing you did during pregnancy that caused the condition.If you’re thinking of getting pregnant and are concerned about a family history of ichthyosis, consider working with a genetic counselor. They can discuss the possible need for testing to determine whether either you or your partner are carriers. If you’re already pregnant and have concerns, ask your healthcare provider about prenatal testing. They can usually carry out genetic testing with samples of skin, blood, or amniotic fluid. Harlequin ichthyosis is usually diagnosed at birth based on appearance. It can also be confirmed through genetic testing. These tests can also determine if it’s another type of ichthyosis. But genetic testing doesn’t offer any information on disease severity or prognosis.With improved neonatal facilities, infants born today have a better chance of living longer, healthier lives. But early, intensive treatment is vital. Initial treatmentA newborn with Harlequin ichthyosis requires neonatal intensive care, which may include spending time in a heated incubator with high humidity. Tube feeding can help prevent malnutrition and dehydration. Special lubrication and protection can help keep eyes healthy.Other initial treatments might include:applying retinoids to help shed hard, scaly skinapplying topical antibiotics to prevent infectioncovering the skin in bandages to prevent infectionplacing a tube in the airway to help with breathingusing lubricating eye drops or protective devices on the eyesManagementThere’s no cure for Harlequin ichthyosis, so management becomes a crucial part of the equation after initial treatment. And it’s all about the skin.Skin protects the body from bacteria, viruses, and other harmful elements in the environment. It also helps to regulate body temperature and fluid loss. That’s why keeping your skin clean, moist, and supple is so important for children and adults with Harlequin ichthyosis. Dry, tight skin can crack and become vulnerable to infection. For maximized benefit, apply ointments and moisturizers right after a bath or shower, while the skin is still moist. Look for products containing rich moisturizers, such as:alpha-hydroxy acids (AHAs)ceramidescholesterollanolinpetrolatumSome people in the ichthyosis community recommend AmLactin, which contains the AHA lactic acid. Others recommend adding a few ounces of glycerin to any lotion to help it keep the skin moist for longer periods of time. You can find pure glycerin in some pharmacies and online. Oral retinoids help with thick skin. You should also protect the skin from sunburn and try to avoid extreme temperatures that can irritate the skin.If you have a school-aged child, make sure to let the school nurse know about their condition and any treatment they may need throughout the school day.You’re not aloneLiving with Harlequin ichthyosis or raising a child with the condition can feel overwhelming at times. The Foundation for Ichthyosis and Related Skin Types offers support group listings, virtual and in-person meetings with others in the community, treatment tips, and more.In the past, it was rare for a baby born with Harlequin ichthyosis to survive beyond a few days. But things are changing, largely due to improved intensive care for newborns and the use of oral retinoids. Today, those who survive infancy have a life expectancy extending into the teens and 20s. And the number of teens and adults living with Harlequin ichthyosis continues to rise. Harlequin ichthyosis is a chronic disease that will always require careful monitoring, skin protection, and topical treatments. But children with a Harlequin ichthyosis diagnosis in recent years have a much better outlook than those born in previous decades.

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