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Hannah-Lee Fitter Ms. Beatty Biology I Honors April 22, 2010 Harlequin Ichthyosis 

Harlequin Ichthyosis is a rare genetic disorder that mainly affects the skin. It is also known as Harlequin baby syndrome, HI, Ichthyosis Congenita, and Harlequin Fetus Type.

Harlequin Icthyosis is inherited in an autosomal recessive trait. Both parents of a child with this unfortunate disease carry one copy of the mutated gene. However, like many other genetic disorders the carriers are unaware and show no traits or symptoms. HI is caused by a mutation in the ABCA12 gene. A loss of functional ABCA12 protein disturbs the development of the outermost layer of the skin which results in the hard, thick scales which are typical of Harlequin Ichthyosis.
 * Inheritance**

Harlequin Icthyosis is a very painful and challenging genetic disease. Victims of HI are affected in all physical areas of their body.
 * Clinical Description of Harlequin Icthyosis**



As soon as a child is born with HI it is clear to see the many physical abnormalities. Infants are born with massive diamond shaped scales rather than skin. The child's eyes, ears, mouth, nose, and other limbs are usually abnormally contracted. The movement of the child, due to the diamond scales, is severely limited and also painful. The lack of movement also creates many dangerous problems for the infants breathing. The lack of movement in the chest and lungs causes difficulty breathing and can unfortunately lead to respiratory failure. Also, since this odd form of skin is cracked where average skin would fold it serves no form of protection. This loss of protection makes way for many forms of bacteria to enter and cause fatal infections to take over the child. (This picture shows the deep cracks the infant has and like of epidermis. It also shows the infant's eyelids are sqeezed inside out due to pressure from tight diamond plates. The postnatal stage is a very painful time for baby and parent.)

The chance of survival for a newborn infant with Harlequin Ichthyosis used to be extremely slim. This is because the skin abnormalities found with HI disrupt the barrier that skin provides as a protection to its surrounding environment. This makes it extremely difficult for affected infants to control water loss, regulate body temperature, and fight infections. Babies with HI often become extremely dehydrated and form fatal infections in just the first few weeks of life. However, with new medical advancements and knowledge of this disease people with the disorder now have a greater chance of living through childhood and even teenage years.



Victims of harlequin ichthyosis at birth are given fluids and large amounts of calories to try to keep up with their extremely fast production of skin cells. If the victim survives through the first weeks or year of birth there is a tough road ahead. Daily treatment is involved by rubbing on many different antibiotic ointments. Just putting on clothes becomes a daily hassle. HI can cause many other terrible diseases. Hannah and Lucy Betts, two sisters in the UK struggling with HI are some of the oldest survivors. However, their terrible disease has brought an extremely difficult life style. Their home must be sterilized everyday and go through a painful exfoliation process by applying barrier cream. The disease has also made Lucy legally blind, and caused Hannah to suffer from cerebral palsy. In the link below an amazing survivor of Harlequin Ichthyosis shows how to push through the odds and live life as it should be lived.

[|Harlequin Ichthyosis-Struggle to Survive]

There is no cure for Harlequin Ichthyosis, but doctors and scientists have taken DNA from older survivors to work for a relief in the extreme pain. As stated before, a ritual of exfoliation to provide a skin barrier is used to try and slow down skin production and protect the body from fatal infections. Victims are hospitalized many times in a year, and each birthday is a landmark. Some cases are more extreme, but all those affected by HI will have a long journey ahead.
 * Treatment**

Harlequin Ichthyosis can be detected prenatally in the womb by a fetal biopsy. If this is not done, once the child is born it is clear through their visual appearance that they are not healthy. Parents can be tested before to see if they are carriers. Both mom and dad must be carriers for the child to be born with Harlequin Ichthyosis.
 * Detection**

Photos and Videos "Características." //Harlequin Ichthyosis//. Web. 25 Apr 2010. . "Harlequin Ichthyosis Trust." //Harlequin Ichthyosis//. Web. 25 Apr 2010. . "Harlequin-type Ichthyosis Disease." //Heart & Soul//. Web. 25 Apr 2010. . "Ryan González struggle to survive." //Videos//. Web. 25 Apr 2010. http://www.izles.net/oLKZIcH7jzp/ryan-gonzalez-struggle-to-survive.html>.
 * Sources**

Web. 25 Apr 2010. []>.

Information "Harlequin ichthyosis." //Genetics Home Reference//. Lister Hill National Center for Biomedical Communications, Nov 2008. Web. 25 Apr 2010. . "Harlequin type ichthyosis." //Doctors Lounge//. The Doctors Lounge., n.d. Web. 25 Apr 2010. . "The Girls with Too Much Skin." //Throng Ltd.// 23 Feb 2008: n. pag. Web. 25 Apr 2010. .