Harlequin Ichthyosis-Medical mondays.
Harlequin Ichthyosis is a skin disease extremely rare of the group of the genodermatosis diseases (group dermatosis hereditary metabolic disorders). Is evident from birth and is named after what they look which resembles a harlequin costume. Harlequin type ichthyosis is a rare genetic disorder of the skin characterized by large, thick flakes that appear throughout the skin, as in turn are born with eyelids flipped so instead of watching eyes totally red eyelids. It is usually associated facial deformities and often features anomalies in other parts of the body, especially in the chest.
This genetic disease is only trasnmited by the ABCA12 gen.this disease is more frequent on england (the place where the disease comes from).
So why this desease is rare? Well is because both parents has to have the ABCA12 gen and 1 of 4 of their childrens can have the diesease.
Actually theres no cure for this disease,only treathment how is alot of expensive. these people depends on Moisturize their skin to prevent cracking of it and die from infection.
Most of the kids infected with this genetic disease die soon after born,but there are some cases that the kids live enough to be a teenager.
By:Daniel Uranda
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it is incredible that exist this kind of disease, but is most incredible all the people who have it, still fight to live, I admire all those people ^^