Harlequin ichthyosis is an inherited disorder that mainly affects the skin. Babies born with the condition have hard, thick skin covering most of their bodies. The rare skin disorder is inherited in an autosomal recessive pattern.
The mutation in ABCA12 gene is believed to be involved in transport of lipids (fats) into the spaces between the cells in the skin's uppermost layer. The ABCA12 gene provides instructions for making a protein, which is necessary for the normal development of skin cells. Protein has a vital role in the transportation of lipids (fat) in the epidermis (the outermost layer of the skin).
The mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein, which is why the hardening of skin tissues. As the result of mutation, the protein is not transported to the lipids (fat). This interferes with the normal development of the epidermis, and leads to the development of hard, thick scales.
Harlequin ichthyosis needs immediate medical care, as the babies are more prone to dehydration, fluid loss and infections. The babies born with the medical condition are cared for at the intensive care unit (ICU) to maintain a safe body temperature and prevent complications that may arise in the course.
The necessary measures may include delivering fluids and nutrition through intravenous tubes, monitoring of electrolytes and sodium, high humidity incubator to maintain body temperature, and Lubrication and protection of the eyes. Besides, antibiotics and retinoids may be prescribed to prevent infection and accelerate shedding of the skin scales, respectively.
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