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THE MYSTERIOUS DISEASE HARLEQUIN ICHTHYOSIS

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Harlequin Ichthyosis is one of the most mysterious diseases of the world.  It is also called “HARLEQUIN BABY”. It is popularly known as a skin disease. It happens due to the thickening of Keratin in human skin. Due to this disease the skin contains massive diamond shapes and skin takes reddish color. Due to this disease eyes, ear and penis increase abnormally. It is easily attracted by bacteria and it causes infection. Harlequin type generally appears in baby’s face and the serious hyperkeratosis helps to cause diamond shape in skin.

It causes serious facial deformities. Ear and nose do not develop normally or some time remain abolish .Eyelid remain everted and the mouth often remain open due to this disease. Due to this disease finger, feet etc always remain in a deform state. Fingers and toes develop abnormally. These are generally abnormal in size. This type of patients cannot grab thing properly. It causes respiratory problem in them.
Genetic testing is the most progressive testing of this disease.



The Archives of Dermatology remarks in 2011 “Harlequin Ichthyosis should be regarded as a severe chronic disease that is not invariable fatal. With improved neonatal care and probable the early introduction of oral retinoids, the number of survivor is increasing”.  
This disease was first found in 1750 from a diary of Rev. Oliver Hart who was a cleric from Charleston,  South Africa. 




"On Thursday, April the 5th, 1750, I went to see a most deplorable object of a child, born the night before of one Mary Evans in 'Chas'town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard and seemed to be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it”.



Hannah and Lucy were the two sister born with this dreadful disease.
Breena Westlake was born on 19 December, 2011. She is a victim of ”harlequin baby”. Courtney Westlake, is her mother, became very shock when she first time saw her. Her eyes were very tight and were looked bloody. Breen’s mother told “it was so frightening”.


                                                                                                                                                                     
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