Harlequin ichthyosis: The rare genetic disease that gives babies hard ‘scales’
Name of the disease: Harlequin ichthyosis, also called fetalis ichthyosis and Harlequin baby syndrome
Affected populations: This genetic condition Affects approximately 1 living births out of 300,000 worldwide. In the United States, it is estimated that it occurs in around 1 birth in 500,000, or about seven births per year, according to the National organization for rare disorders. The condition seems to affect men and women in equal number and does not occur in greater frequency in a specific racial or ethnic group.
Causes: The ichthyosis of the harlequin is caused by a variety of mutations in a gene called ABCA12which has instructions for proteins that ship molecules through cell membranes. These proteins are essential to transport fat and enzymes in the most external layer of the skin, called epidermis.
Most people with Harlequin ichthyosis Transport a genetic mutation that makes cells make ABCA12 proteins that are too short and therefore unable to carry fat properly. In some cases, people cannot make protein at all, which results in the most serious cases of the disease.
Evidence suggest that the condition is inherited in An autosomal recessive modelThis means that a baby must inherit two copies of the broken gene – one of each parent – to develop the disorder. People with a single mutant copy of the gene are “carriers” but do not have symptoms. People with family history of the disorder can consider looking for genetic advice to see if they are transporters.
Symptoms: The transport of fat molecules in the epidermis is important to keep the skin hydrated, and it is also necessary that the skin is developing properly in the uterus and after birth. When babies have too short or completely absent abca12 proteins, these infants were born with thick skin scales and plate, which cause the skin stretching.
The tight skin cracks easily, forming cracks. The tension pulls on the eyelids and lips of the affected baby, turning them inside, and it also tightens the movement of the chest, which hinders breathing and consumption. Poor nail and hair growth is also common.
Babies with Harlequin ichthyosis have often been born prematurely, and they can also show additional symptoms and features, such as flat nose, abnormal hearing, ears that are merged at their head, swollen hands and feet and a decrease in joint mobility.
The condition compromises the protective barrier of the skin, leaving the infant vulnerable to dehydration and unable to regulate their temperature well or to fight against infections. For infants who survive the newborn period, “armor -shaped” plates Finally, and the remaining skin is very red, dry and scaly.
Infants with Harlequin ichthyosis often do not survive the newborn period, but with intensive medical care, it is possible for them to survive in early childhoodChildhood and even at the beginning of adulthood, in some cases. A Report who examined 45 cases of illness found that around 55% of patients survived the newborn period, with survivors ranging from 10 months to 25 years at the time of the survey. The current causes of death in the period shortly after birth included respiratory insufficiency and / or septicemia, a dangerous immune response on a body scale.
Treatments: There is no remedy for the ichthyosis of the harlequin, so Care aims to manage the symptoms of the disease.
According to the Cleveland clinicBabies in the state are supported in the neonatal intensive care unit (factory) immediately after birth. There, they can be placed in high humidity incubators to help regulate their temperature and their skin hydration. They are also often bathed to soften and loosen the skin plates, and exfoliation techniques can be used to help eliminate the scales. Moisturizers and repair formulas of the skin barrier can also help dry and excessive stiffness of the skin. Various pain relievers can help make newborns more comfortable.
In serious cases, drugs called retinoids can be used and are generally administered orally. These drugs help decompose thick and flat scales covering the skin, which, in turn, can reduce other state symptoms. However, these drugs are kept for serious cases because they can have toxic side effects if used in the long term.
Antibiotics may be necessary to prevent or counter skin infections. The eyes must also be lubricated regularly, as infants with the condition cannot close their eyelids properly.
Once released from the factory, children with Harlequin ichthyosis require continuous skin care, as well as lifelong medical care to manage additional symptoms that can emerge because of their condition. These care generally requires a diversified team of specialist doctors, including ophthalmologists, plastic surgeons, nutritionists, physiotherapists and speech therapists.
This article is for information only and is not supposed to offer medical advice.
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