Saturday 15 March 2014
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- gail english
- i will give you a run down on what XLI is, then what my family have X-linked ichthyosis is a condition due to an inherited deficiency of an enzyme called steroid sulphatase. This enzyme is found throughout the body but seems most important in the skin. When there is too little enzyme the skin can't shed normally so it appears dry and scaly. All of the skin can be affected but the face, scalp, palms and soles are relatively spared. The skin scales can look brown or pigmented at times and this can lead to teasing at school as people misinerpret this as being unwashed, and it's nothing to do with personal hygiene. The abnormal gene that causes XLI is carried on one of the sex chromosomes called the x-chromosome. XLI only occurs in boys (who have 1 X-chromosome). Girls (who have 2 X-chromosomes)can be carriers but their skin is normal. But my two boy's and my brother have a large deletion wich is rare that has knocked out a lot. including the NLGN4 gene that is responsible for an increased risk of ADHD and autistic spectrum difficulties.