Essay On Harlequin Ichthyosis

806 Words4 Pages
One of the most severe genetic diseases in the world is harlequin ichthyosis. Harlequin ichthyosis is a skin disease that is found in genetic background and usually starts at birth. It’s characterized by a thick layer of skin covering over 90 or 100 percent of the body. This disease had been known since 1700, it was first described in the diary of rev. Oliver Hart from Charleston, South Carolina. This skin disease can cause death upon one month being affected by it. The first baby affected with is was by a women that went by the name Mrs. Evans, her first name was not specified and the baby died forty eight hours later. When her baby was born it had very underdeveloped ears ,nose and eyelids which were covered with skin. When the eyes and…show more content…
Although they were probably many more that had the disease before it was documented. Hart made it possible for them to know they’re not alone. Since then many more have come from the closest and asked for help or treatment for their children. The most famous case today is of a family with three daughters with the disease and they are alive and kicking. The disorders name comes from the character harlequin in the Italian commedia dell arte, which made its debut in 1580. The harlequin is characterized by his chequered costume. The disease mimics a similar pattern on the skin that is afflicted. Many believe that the disease has resurfaced since the early 1300s and is a curse to kill the young. A punishment from the gods as they said in the play, they were punished for disrespecting or not glorifying the gods. The term harlequin also derives from the facial appearance and the triangular and diamond shaped pattern of hyperkeratosis. Hyperkeratosis is when the outer layer of the skin is thickened. The outer layer of the skin will contain keratin, which is a protective protein. It is a form of keratosis, which is a skin disorder caused by over production of
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