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Harlequin Type Ichthyosis PDF Print E-mail
Written by Bhuvan Chand   
Tuesday, 29 September 2009 09:26

This is a genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.

Symptoms

Skin contains massive, diamond-shaped scales, have a reddish color. The eyes, ears, penis, and the appendages may be abnormally contracted.

Cause

Mutation in the gene for the protein ABCA12.

diagnosis

diagnosis is made by Physical assessment , Genetic testing, Biopsy of skin.

Treatment

Medicine used  in treatment is retinoids such as the drug Isotretinoin

Last Updated on Wednesday, 26 December 2012 17:15
 
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