Essay On Harlequin Ichthyosis

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leBasic Description: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick, dry skin covering most of their bodies. The skin of the baby produces large cracks making diamond like figures. Since the skin is like this it also affects the babies features such as it’s’ eyelids, nose, mouth, and ears. It also limits the movement of the arm and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure. Since the infants skin is cracked that usually leads to infections getting inside the skin. Basic History: The disease has been known since 1750, and was first described in the diary of a cleric from Charleston, South Carolina, the Rev. Oliver Hart. Back then there was usually no chance for the baby. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence. Symptoms: * Premature birth…show more content…
However, in order to confirm a diagnosis of this particular type of ichthyosis, a skin biopsy is strongly recommended. (the removal for diagnostic study of a piece of tissue from aliving body.). This specific type of technical examination can identify the characteristic changes within the epidermal cells associated with hyperkeratosis, (overgrowth and thickening of the outer layer of the skin). The cells of the stratum corneum (dead flattened skin cells) contain protein and act as a protective barrier along the surface of the body. The process by which new epidermal cells are formed and gradually changed into the cells of the stratum corneum is referred to as keratinization. It is controlled by a number of different metabolic pathways, and an abnormality at any point can theoretically lead to conditions such as ichthyosis (a hereditary skin disease) or other serious skin

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