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 * __ Harlequin Ichthyosis __ **

By: Darin Melcher

**What is harlequin ichthyosis? ** n  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. n The skin forms large, diamond-shaped plates that are separated by deep cracks n Restricted movement of the chest can lead to breathing difficulties and death



n Harlequin ichthyosis is very rare; its exact occurrence is unknown.
 * How common is harlequin ichthyosis? **

n Mutations in the [|ABCA12] gene cause harlequin ichthyosis. n The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). <span style="font-size: 12pt; color: #000066; font-family: Wingdings; mso-list: Ignore; msofareastfontfamily: Wingdings; msobidifontfamily: Wingdings; msolist: Ignore;">n <span style="font-size: 12pt; color: black; font-family: 'Times New Roman','serif'; mso-fareast-font-family: 'Times New Roman'; mso-themecolor: text1;">A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.
 * <span style="font-size: 13pt; color: #f00505; font-family: 'Times New Roman', Times, serif;">What genes are related to harlequin ichthyosis? **

<span style="font-size: 12pt; color: #000066; font-family: Wingdings; mso-list: Ignore; msofareastfontfamily: Wingdings; msobidifontfamily: Wingdings; msolist: Ignore;">n <span style="font-size: 12pt; color: black; line-height: 115%; font-family: 'Times New Roman','serif'; mso-themecolor: text1;">Harlequin ichthyosis only occurs when both parents carry the same defective gene; the chances of this are one in a million. However, the chances of these parents producing a harlequin child are 1 in 4. <span style="font-size: 10pt; color: black; line-height: 115%; font-family: 'Arial','sans-serif'; mso-themecolor: text1;"> <span style="font-size: 12pt; color: #000066; font-family: Wingdings; mso-list: Ignore; msofareastfontfamily: Wingdings; msobidifontfamily: Wingdings; msolist: Ignore;">n <span style="font-size: 12pt; color: black; line-height: 115%; font-family: 'Times New Roman','serif'; mso-themecolor: text1;">In the past this dieses was inevitably fatal. <span style="font-size: 12pt; color: #000066; font-family: Wingdings; mso-list: Ignore; msofareastfontfamily: Wingdings; msobidifontfamily: Wingdings; msolist: Ignore;">n <span style="font-size: 12pt; color: black; line-height: 115%; font-family: 'Times New Roman','serif'; mso-themecolor: text1;">A new drug called <span style="font-size: 12pt; color: black; line-height: 115%; font-family: 'Times New Roman','serif'; mso-ansi-language: EN; mso-themecolor: text1;"> [|Isotrex] has been proven to allow infants to live until adolescence and in rare cases even adulthood <span style="font-size: 12pt; color: black; line-height: 115%; font-family: 'Times New Roman','serif'; mso-themecolor: text1;"> <span style="font-size: 12pt; color: #000066; font-family: Wingdings; mso-list: Ignore; msofareastfontfamily: Wingdings; msobidifontfamily: Wingdings; msolist: Ignore; msobidifontsize: 11.0pt;">n <span style="font-size: 12pt; color: black; line-height: 115%; font-family: 'Times New Roman','serif'; mso-themecolor: text1;">Constant washing is needed to remove the extra layers of skin. This can be a very Painful and slow process. [] [] [] [] []__**
 * <span style="font-size: 13pt; color: #ef0606; font-family: 'Times New Roman', Times, serif;">How do people inherit harlequin ichthyosis? **
 * <span style="font-size: 18pt; color: #ec0909; font-family: 'Times New Roman', Times, serif; msofareastfontfamily: 'Times New Roman'mso-ansi-language;">Treatment and prognosis **
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