Essay On Harlequin Ichthyosis
160056
Harlequin Ichthyosis
“Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs (Genetics Home Reference, 2008).”
Definition:
Harlequin ichthyosis is considered the most extreme form of the ichthyosis category of diseases. It is defined by thick, hard plates of skin, and large cracks and gashes in the skin, covering almost the entire person’s body. While this disorder would seem to give increased physical protection for the patient, it also causes them to be more susceptible to infections; this …show more content…
This case was witnessed in a newborn by Reverend Oliver Hart, who compared the newborn’s skin to “the scales of a fish”. Many of the facial features, such as the nose and ears, were unconstructed, instead being replaced by simple holes on the front and side of the head. And perhaps most terrifying is that the eyes appeared to be filled with blood, as they were completely red in color. The baby passed away two days later (The Chirurgeon’s Apprentice, 2014).
Contraction:
As previously mentioned, this disorder is a part of the larger group of Ichthyosis disorders. Some forms of Ichthyosis can be contracted due to the recipient’s environment. However, Harlequin is spread genetically. Males have a higher chance of contracting the disorder, since it is present in the X chromosome. Sometimes, a female’s second X chromosome can take over, and keep the body functioning normally. However, with a male’s XY chromosome makeup, the body is not able to replace the infected gene, causing the person to be infected with Harlequin Ichthyosis (DermNet NZ, 2003).
Harlequin Ichthyosis
“Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs (Genetics Home Reference, 2008).”
Definition:
Harlequin ichthyosis is considered the most extreme form of the ichthyosis category of diseases. It is defined by thick, hard plates of skin, and large cracks and gashes in the skin, covering almost the entire person’s body. While this disorder would seem to give increased physical protection for the patient, it also causes them to be more susceptible to infections; this …show more content…
This case was witnessed in a newborn by Reverend Oliver Hart, who compared the newborn’s skin to “the scales of a fish”. Many of the facial features, such as the nose and ears, were unconstructed, instead being replaced by simple holes on the front and side of the head. And perhaps most terrifying is that the eyes appeared to be filled with blood, as they were completely red in color. The baby passed away two days later (The Chirurgeon’s Apprentice, 2014).
Contraction:
As previously mentioned, this disorder is a part of the larger group of Ichthyosis disorders. Some forms of Ichthyosis can be contracted due to the recipient’s environment. However, Harlequin is spread genetically. Males have a higher chance of contracting the disorder, since it is present in the X chromosome. Sometimes, a female’s second X chromosome can take over, and keep the body functioning normally. However, with a male’s XY chromosome makeup, the body is not able to replace the infected gene, causing the person to be infected with Harlequin Ichthyosis (DermNet NZ, 2003).