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Abstract. Harlequin Ichthyosis (Hi) Is A Genetic Disorder

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Abstract Harlequin Ichthyosis (HI) is a genetic disorder resulting from a mutation of the hosts DNA. This stops one of our most important organs (the skin) from synthesizing correctly, which causes a cascade of health problems. It is often noted first at birth, by the presence of deep fissures and skin growth in distinct diamond-shaped scales across the body. The deep fissures leave the host susceptible to a number of different diseases and disorders, from microorganisms trying to invade and colonize the body, to the excess loss of nutrients critical to the host’s survival. This requires a lot of medical assistance in order to keep the afflicted alive and well. Today’s technology has allowed for an increased survival rate for newborns…show more content…
This then leads to disrupted skin permeability and hyperkeratosis (overproduction of skin cells) as the body tries to compensate for the lack of lipids in the skin. Eclabium (lips turning outward), ectropion (eyelids turning outward), hyperkeratosis and disrupted barrier permeability cause the majority of health issues encountered by those with HI. These symptoms, along with the lack of lipids, lead to a lack of lubrication for the skin once a child is born. In the womb, the child is kept nourished by the amniotic fluid, but postnatal exposure to air causes rapid dehydration of the neonate’s skin, which causes the skin to shrink and tighten severely, the skin can even constrict enough around the thorax that breathing may be impeded, leading to suffocation and death. The skin may also constrict so much so, that it cracks, this is where the rest of the health problems associated with HI arise from. When the skin begins to crack, it cracks deep leaving fissures in the surface of the skin that may bleed if they are deep enough. The fissures leave the newborn susceptible to their environment by providing microorganisms an entrance to the body, which may cause bacterial septicemia. At the same time, these fissures cause the child’s body temperature to drop from losing heat to the environment, and since they are open wounds, leaking of
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