The newborn was born with hard, thick skin that covered her entire body. The gaps between the layers of skin due to a rare genetic disease that damages the skin. India’s first recorded incidence of hard arliquin ichthyosis baby was reported in the nightpour in early Saturday morning following the birth of a preterm baby girl to a young farming couple at the late Mangaskar Hospital on Friday night.
The newborn was born with hard, thick skin that covered her entire body with gaps between the layers of skin due to a rare genetic disease that damages the skin. There are two holes for a nose, an inverted eyelid, no ears and a mouth that looks like it belongs to a fish.
Medical professionals curing for her in the neonatal critical care unit say a series of tests scheduled for the following two days will help to determine the full extent of her medical condition. Because their internal organs are exposed, such babies are more susceptible to infection. By putting Petroleum jelly to her skin, we are able to keep her skin moisturized. At this point, we’re not sure whether she even has eyeballs, said Dr. Yashminate.
We’re not even sure if she has eyeballs. Mother, 23 and father, 27, gave birth to the child following an eight month pregnancy. They are both carriers of the defective genes that are responsible for the skin condition. Harlequin disease is caused by a mutation of the ABCA twelve gene. This is because the pair is from a low income family and the pregnant mother did not have any maternity tests in her village in Nagpur district during her pregnancy.
Because the family is below the poverty line, such a problem can be diagnosed in the fourth month of pregnancy, at which point doctors will recommend that the pregnancy be terminated. According to Gynecologist. Prachi Dixit, the delivery came as a shock to the parents, who had no prior suspicions about the newborns growth anomalies before the birth. In the hospital, the baby’s heartbeat was normal and he was born at 12:45 a.m. After having a cesarean section.
He’s doing well. The baby girl, who weighs 1.8 kg, is also the couple’s first child and she’s currently fighting for her life as a result of a number of medical defects that have been discovered. According to a group of experts who are keeping an eye on her, she is at a risk for hypothyroidism, respiratory illness and organ malfunction as a result of her underdeveloped internal organs. The infant Shaheen, who was born in Pakistan in 1984, has the distinction of being the world’s longest surviving child. Her most recent medical records date back to 2008.
We’re confident that she lived at least until she was 24 years old. Normal skin, on the other hand, never grows back in this scenario, Benate explained. In this particular circumstance, it’s a girl child and there’s a social shame associated with such a situation. In a Hamlet, it’s possible that people would refer to the child as a ghost baby. Therefore, we’re taking steps to ensure that the parents identities are kept secret, the doctor continued.
At this point in time, the mother, who’s still under anesthetic, has not been notified of her daughter’s current status. She’s surrounded by her family, which includes her father and grandma. In another similar story in Italy. Baby with rare skin condition Abandoned at an Italian Hospital An Italian newspaper reports that an infant born with a unique ailment that requires them to be protected from direct sunlight has been abandoned at a hospital in Turin. Giovannino, a four month old baby with Harlequin EthioSIS, a hereditary disorder that creates thick, dry skin, was born to his parents.
Despite the fact that nurses have been caring for him since his birth in August, it’s possible that he’ll need to be discharged from the hospital within weeks. It’s unclear why the parents have been unable to be contacted or why they’ve not returned to pick Giovannino from the hospital. I have no idea why this child’s been abandoned. The only thing that’s known is that this boy has been abandoned, one of the nurses caring for him had sent Anna Hospital in Italy stated on condition of anonymity, according to Italy’s La Stampa newspaper. The nurse went on to say that Giovannino is being pushed about the hospital halls by several members of the staff.
He’ll soon have a small room of his own, which is something we all hope for. Officials in the area are apparently aware of the situation and have been attempting to contact the children’s parents in order to get a reaction. They’re also considering providing GNO with a temporary residence, but because of his medical condition, he’ll require extra attention. According to Lispa, Giovannino is currently being cared for in a neonatal intensive care unit at the medical center. The sun should be kept away from him and he should be moisturized many times a day to help prevent his skin from drying out and breaking.
In an interview with the Republica, the chief of the newborn unit, Danielle Farina, described him as a cute boy who smiles and enjoys being escorted around the world. Farina also stated that he is thrilled when someone forces him to listen to music. The hospital received dozens of calls and emails from people who wanted to adopt Giovannino within hours of his story. Making the news on Wednesday, some submitted passionate letters outlining their reasons for wanting to welcome them into their homes. The authorities in Turin, a Northern Italian city, said they were assessing all petitions and considering the prospect of specialized foster care.
What is the cause of Harlequin? Ichthyosis Harlequin ichthyosis is a genetic skin condition that affects only a small percentage of the population. The newborn infant skin is coated with thick slabs of skin that fracture and split apart as it grows. The hefty plates have the potential to pull out and distort face features as well as hinder respiration and food intake. Harlequin infants must be taken to the neonatal critical care unit as soon as possible after being born.
Inheritance of Harlequin EthioSIS is based on an autosomal recessive pattern of inheritance, symptoms and signs of the condition. Infants with harlequinipiosis have thick platelet like scales of skin covering their bodies. It appears like the skin is pulling around the eyes and mouth, pushing the eyelids and lips to flip inside out, showing the Crimson inner linings of the eyes and mouth. When the skin is too tight, it might restrict the baby’s chest and abdomen, making breathing and eating challenging for the baby. The hands and feet may be tiny and bloated, with only a partial flexion of the joints.
The ears may appear to be deformed or missing, but they are actually glued to the head by thick skin surrounding the ear canals. Among the other symptoms of Harlequin EthioSIS, infants born with the condition may have a flat nose, poor hearing, recurrent respiratory infections, and limited joint mobility. Premature birth is common, putting the infants at risk for difficulties as a result of the premature delivery. The low body temperature, dehydration, and hypernatremia that these newborns are at risk for are equally significant. Constriction and swelling of the mouth can impair the suck response, resulting in newborns requiring tube feeding.
If the infant’s eyeballs are forced wide by the tightness of the skin, it’s necessary to lubricate and protect the cornea of the newborn.
It is believed that variations or mutations in the ABCA twelve gene, which provides instructions for creating a protein that’s required for skin cells to form correctly, are the cause of Harlequin EthioSIS. It’s essential in the delivery of fats or lipids to the most superficial layer of the skin, where they are converted into an efficient skin barrier.
When this gene is altered, the skin’s natural defenses are compromised. Inheritance of Harlequin ichthyosis is based on an autosomal recessive pattern of inheritance. When a child or adult receives a defective gene from each parent, they are said to have a recessive genetic condition.
One normal gene for the disease and one faulty gene for the disease are passed down from the parent to the child. The child will be a carrier for the disease but will not normally show symptoms. Having two carrier parents increases the likelihood that both of their children will inherit the faulty gene and will be impacted by the condition by 25% with each pregnancy. With each pregnancy, there’s a 50% chance of having a child who is also a carrier, just like the parents. When both parents have normal genes, there is a 25% probability that the child will have normal genes.
Males and females are both at risk of developing it. Diagnosis Harlequinythiosis is diagnosed at the time of birth based on the physical appearance of the infant. Prenatal testing for mutations in the ABCA twelve gene may be accomplished by analyzing fetal DNA for the presence of the gene.
In addition, some of the characteristics of Harlequin echiosis may be visible on ultrasound during the second trimester and beyond. Depending on the individual treatments that are commonly used from the moment they’re born, newborns with Harlequin fhiosis are cared for by a multidisciplinary team.