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متن از johnask - English

  • Xeroderma pigmentosum

    • First disease: Xeroderma pigmentosum or sickness of the children of the moon In the first place, I will talk to you about the Xeroderma pigmentosum or called the sickness of the children of the moon.
  • This is an autosomal recessive disease which is characterized by extreme sensitivity to ultraviolet radiation from sunlight and certain artificial lighting caused by mutations in genes that function in the repair of DNA.
    • The symptoms are ocular, skin lesions (such as redness, hyperpigmentation..), the development of skin cancer and in some cases neurological disorders.
    • In Europe and United-states this disease affects one in one million people.
    • There is no curative treatment, only prevention of symptoms by avoiding any exposure to the sun (wearing clothing covering, repeated applications of sunscreen, anti-UV windows) To conclude, we would like to add that these diseases are rare diseases that are left far too far behind.
    • Maybe with a little more financial investment, we could save thousands of lives, but the research today is focused on what makes the most money in proportion to the number of patients, which is understandable.
    • Today, the number of associations that fund research is on the rise, but it is still not enough.

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