Harlequin Ichthyosis. By: Dan Hood, Matt Sharbaugh, Brian Monterroso. WARNING!. THE IMAGES YOU ARE ABOUT TO SEE ARE REAL AND MAY CAUSE SOME TO BECOME QUEASY !. Biological Basis. Intro:
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Most of the time the child dies within a few days because of respiratory disease, bacterial infections, feeding difficulties, and body temperature regulation.
Respiratory failure can result from restricted movement of the chest muscles, and bacterial infections occur from the lack of a protective outer layer. The bacteria can easily enter the baby through the fissures in the skin. The cracks in the skin allow water and heat to escape.
Members of the class of ABCA genes are involved in lipid transport across cell membranes. The proteins the gene produces bind to ATP for active transport of lipids to the stratum corneum, the outer most layer of the skin. These lipids are important for the protection of the skin.
The condition was first described in South Carolina by Reverend Oliver Hart.
"On Thursday, April ye 5, 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."