Harlequin Ichthyosis is a rare congenital skin disorder that is characterized by thick, hyper keratinized plates of skin covering the body. The skin is very tough, inelastic and can cause movement impairments (Uitto, 2005). These symptoms are first seen in infancy. It is very common for the infant to be premature and have distorted facial features due to the thick plates of skin pulling apart. Due to the tension on the infant’s face, the infant’s eyelids and lips are turned inside-out. Harlequin Ichthyosis is often called “Harlequin Fetus” because the victims are usually born prematurely and die shortly after due to respiratory distress, feeding issues, or infection (Uitto, 2005). However, some with Harlequin Ichthyosis survive past infancy…show more content… Discovering ABCA12 mutation early will dramatically improve the patient’s diagnosis (Sakai, 2007). Due to the analyzation of the results from many case studies several conclusions can be drawn about the cause of Harlequin Ichthyosis in hopes for preventative treatments for people born with the rare genetic disorder. First from the results shown by Kelsell, Smyth, Sakai, and Akiyama in their respective case studies it is clearly shown that a mutation in the ABCA12 gene is the main cause of Harlequin Ichthyosis. This would also explain the excessive dehydration found throughout the skin of newborns affected by Harlequin Ichthyosis as ABCA12 is meant to instruct lipids to retain water for the skin, so ABCA12 deficiencies result in dehydration throughout the skin. Another important takeaway from the case studies analyzed is that in some instances ABCA12 mutations are hereditary and can be passed on paternally to offspring. Moving forward this information could be of huge assistance in hopefully finding a treatment for this deadly disease caused by a single gene mutation, or at least being able to identify this mutation earlier in newborns before there is nothing that can be
