Mistakes are common in the world. For all the world to know, humans may be the biggest mistakes to ever roam the earth. Down to the DNA, humans are bound to be perfect in code from the head down. As many know, perfect is practically an impossible thing to achieve and the imperfections can be plunged into the genetic code of a human. A mutation is a mistake in the pairing of DNA due to some reorganization errors.
Depending on the mutation, it can have some serious side effects which can alter the way the human body will function. Harlequin Ichthyosis is one of many types of Ichthyosis related disorders. Ichthyosis disorders all have to do with a problem to the skin. Harlequin Ichthyosis, specifically, is a genetic disorder when the ABCA12 gene (Genetic Home References) has a mutation.
Other names for Harlequin Ichthyosis is Harlequin Fetus and Ichtyosis Fetalis (National Organization for Rare Disorders). If a person has this disorder, they have a problem with a protein which helps produce proper functioning and healthy skin cells. Due to this problem, they grow an excessive amount of unwanted skin. Despite the mutation only occurring in the skin cells, the rest of the body can also affected due to the disorder. A patient can experience problems with their hearing, their lungs, and their immune systems to name a few. The immune system gets relatively weak but luckily, the disorder is rare and the only people who can only get it are when both parents carry the recessive gene. The disorder is caused by a gene mutation.
This gene is called ABCA12 which “provides instructions for making protein that is essential for normal development of skin cells” (Genetics Home Reference). When the gene is mutated, it causes an influx of skin to be formed because the protein has a problem transporting things such as lipids correctly. The skin, especially at birth, can appear scaly and affect the structure of other body parts, especially around the face.
Harlequin Ichthyosis is diagnosed through the testing of the gene, ABCA12. The testing is taken by taking a blood sample of the baby and which is then taken to a lab for genetic testing. If the gene is confirmed to be mutated, then the baby has the genetic mutation. Further genetic testing of the patient is used to determine which type of the Harlequin Ichthyosis they have and the severity of it. In addition, USG is a type of ultrasound that is used for pregnant women. Using USG can be another method for the diagnosis of a fetus with Harlequin Ichthyosis. This is because the symptoms of the child can be seen through the image such as the disfigurement of the eyelids and lips. Harlequin Ichthyosis’ signs and symptoms develop before a child has even left the womb which means detections mainly comes when there is an ultrasound for a pregnant mother.
One obvious sign, which can be seen before birth and even after, are abnormal body parts. When under a ultrasound, the disfigurement can come with “eversion of the eyelids (ectropion), eversion of lips (eclabium)” (Rathore). Once the fetus comes out of the womb, it can also have a coat of scaly skin which accompanies its other disfigured exterior body parts. The skin may look like “diamond-shaped plates that are separated by deep cracks” (Nation Institute of Health). For a more understanding visual, think of the armor plate of an ankylosaurus with the deep cracks between each plate. The cracks are on the person but the difference is, the plates can give excruciating pain as the cracks are open and also the plate means worse for the patient rather than an act of self-defence. After a couple months of being born in the world, the child’s scaly skin begins to peel off (National Organization for Rare Disorders). The skin will eventually become red and dry as the scales completely peel off.
Currently, there is nothing that can cure the genetic disorder. Though, the disorder does come with a very weak immune system. As a result, there is a need for antibiotics. These antibiotics are especially important due to the cracks in the skin of an affected person.
It causes the newborn child to be more prone to infections as the cracks leave open wounds. Open wounds are often caused during the early stages where the skin is being peeled off. This complication alone requires intensive nursing care for the child (First Skin Foundation).
Giving a close watch of the child is instrumental to its survival as most patients often die within the first few days after birth. Skin treatment helps reduce the likelihood of cracks appearing. The treatment must be done regularly to keep it moisturized. A person with a disorder can live a very complicated life with the terrible side effects that come with Harlequin Ichthyosis.
When in the very firsts weeks of life, the child is in intensive care clinging on to life with the help of doctors and nurses. They can also suffer a difficulty of eating breathing from the scales on their skin which causes restrictions in the abdomen and the chest with tightness. Due to the scales stretching all over their face and body, they could have a difficulty in hearing. Even after being released to go home, more hospitalization may occur after from the continuing skin peeling which causes the infections. Stephanie T lives with the complications of Harlequin Ichthyosis.
She has explained how growing up in elementary school, she was often tired and fatigued a lot more easily comparing to most students. Especially when the weather was warm, she would mostly have to stay inside the classroom. This is most likely due to her body having trouble maintaining a stable body temperature. As life passes, she seems to have had a pretty normal and typical life. She was able to get married and even conceive a child who was a healthy little boy. So far, she has been the only person with the disorder to give way to a child. From her story, the complications of Harlequin Ichthyosis often disappear as the patient gets older.
The life expectancy of a patient with Harlequin Ichthyosis stems typically up to the teenage years and early adult years. This is if they survive their first months of life. Stephanie T’s story in a miracle as she has been only a handful of victims to be able to survive this far into their life. Not much current day medical research can be found about Harlequin Ichthyosis but there has been some in the past which gave some instrumental information about the disease.
. The most recent findings have come from the gene that causes the patient to have the severe deformity of the skin. This was recently discovered in 2005 at the Thomas Jefferson University (First Skin Foundation). Most current day medical research will go into the Ichthyosis disorder as a whole more than just focusing on one rather rare disease. Ichthyosis discoveries include the reason for the redness in the skin for most other Ichthyosis disorders (First Skin Foundation). This research will come mainly in the treatment of skin such as the testing of medicines that are used for patients with less severe skin disorders such as psoriasis. They hope the medicine will produce the same successful result when tried on patients with Ichthyosis. The severity of Harlequin Ichthyosis and the rarity it comes in can cause it to be slipped under the bus like other diseases that are common but the catch is, most common diseases cause not much harm to the patient.
When the research was once thriving, the Harlequin Ichthyosis patients were able to have the ability to live into their teenage years compared to just a few days after birth. Now, that it has slowed down, patients will now have to accept their fate for just living only a fourth of the common human lifespan. For now, Harlequin Ichthyosis stays as one of many heartbreaking and life-changing disorders for both the patient and their family with the mortality rates still considerably high. Maybe in years passed, scientists take more eyes on this condition, even if it is an extraordinarily rare one, and find better ways to treat patients, especially in their newborn stages.
It’s just a matter of waiting for who’s going to make the move.