Rare Genetic Disorder Causes Slovak Girl to Have Skin Thickness of 8 mm, Loss of Eyelids, Two Fingers, Four Toes, and Inability to Regulate Body Temperature.
According to Independent, from the moment she was born, Elizabeth Kadlecik has been afflicted with Harlequin Ichthyosis, a condition that causes her skin to grow rapidly and thicken to 8 mm, resembling turtle shell. This is an extremely rare genetic disorder, affecting 2 out of every 1,000,000 children born worldwide.
Elizabeth’s mother, Natalia, shared that when she was 30 weeks pregnant, doctors informed her that her daughter would be born with both mental and physical disabilities but did not provide a precise diagnosis of the condition.
From birth, the skin on Elizabeth’s face and chest hardened, causing her breathing difficulties. (Photo: Independent).
Born prematurely at just 34 weeks, Elizabeth was immediately transferred to the neonatal intensive care unit due to the hardened skin around her face and chest, which made it difficult for her to breathe. In the weeks following her birth, the thick and rigid skin restricted her growth, causing deformities in her face and body. The severity of her condition led doctors to believe that the baby girl had no hope of survival. However, fortunately, after five weeks of sedation, Elizabeth survived.
This rare skin condition has resulted in the loss of her eyelids, two fingers, and four toes, and she cannot regulate her body temperature due to an inability to sweat. Because of the rarity of her condition, plastic surgeons were initially unable to remove the thick skin right after her birth.
Concerned that Elizabeth’s skull might be hindered in its development, her parents took the risk to perform a surgery to remove the excess skin, which fortunately was successful.
The rare skin condition has caused Elizabeth to lose her eyelids, two fingers, and four toes. (Photo: Independent).
“Within a few days, Elizabeth was freed from her cocoon-like shell,” Natalia announced on her personal page.
Elizabeth is currently the only patient in Slovakia diagnosed with this skin condition.
Every day, Elizabeth receives eye drops and gel every hour because she cannot close her eyes; her body is bandaged, and she bathes twice to exfoliate the excess skin and applies moisturizer at least six times.
Her mother noted that if moisturizing is not done promptly, Elizabeth’s skin could crack and bleed, posing a risk of infection. This has happened, requiring the baby to receive blood transfusions three times.
Natalia stated: “We follow all the rules and skincare regimens for her skin and eyes, ensuring she is not overheated. When cared for properly, Elizabeth is comfortable, happy, and interacts with us like any other healthy child. Fortunately, she has not been affected mentally. Some people even say that children with this condition tend to be very intelligent.”
This mother also mentioned that doctors have varying opinions on how long her daughter might live. Some say she won’t live beyond 20 years, while others believe there is no reason Elizabeth cannot live to old age.
“Elizabeth’s future is a big question, even for specialists, but we do not blame anyone. In the future, I will homeschool her. She may need cosmetic surgery for her eyelids, fingers, toes, and ears,” Natalia shared.
