Xeroderma pigmentosum

Described in 1870 by Moritz Kaposi, the xeroderma pigmentosum is a rare photodermatosis of genetic cause . It is characterized by an excessive sensitivity of the Peau to the Sun, ocular disorders and a risk multiplied by 1000 to develop a Cancer skin or eyes. Concretely, the mechanisms of repair of DNA are inoperative because of the absence of DNA polymerase 1 and 3 which do not manage in particular to extract the Dimère S from Thymine. The changes due to the environment (especially Ultraviolet S) thus multiply freely at the time of the Mitose.

Half of the people reached have as of more the young age one excessive cutaneous reaction to the solar exposure. One of the characteristics of the disease is the presence of lentigines solar similar to important Freckles on the level of the face before the two years age, whereas those are rare in the children. The skin is dry and thick with varied anomalies of the pigmentation.

The ocular disorders are often limited to the former Chambre of the eye implying a cataract or a Kératite. The eyelids are very fragile with loss of the lashes and being able to go until the total destruction. The Middle Age of occurred of cancers of the skin is lower than 10 years.

A third of the individuals has neurological demonstrations including/understanding of the hearing impairments, a microcephalus, disorders of the development and tendineux reflexes decreased or absent.

The forms alternatives of the xeroderma pigmentosum appear much later. The affection is characterized, as of early childhood for the majority of its forms, by hyperpigmentations appearing with the sun evolving/moving in Cancer ocular or complications.

It can also include other neurological problems, nanism…

It touches the two sexes. According to its form and age to which she declares herself, she reduces the life expectancy of the patient significantly.

There does not exist any treatment at present. One can only limit the symptoms by applying drastic and very expensive precautionary measures.

It is thus necessary to remove any exposure to UV, or at least to reduce it very strongly. For that, it is necessary to use integral behaviors (developed by NASA), to frequently apply intensively and sun lotions to maximum index of protection, to be wary of any source of light (sun, neons…) and to measure its rate of UV before exposing the patients to it. It is necessary to consult its dermatologist very regularly and to deal with any dermatological problem quickly.

Various types of Xeroderma pigmentosum

Anecdote

Xeroderma pigmentosum is also called " disease of the vampires". Indeed the individuals reached cannot expose themselves to the solar rays, under penalty of seeing appearing serious lesions on the level of the skin; the skin acquires also a very pale color because of a completely non-existent bronzing. Because of a weakness of the gums, the canines are badly established and thus exceed in an abnormal way|date= . The disease also affecting the red globules, a patient must undergo very many blood transfusions. Moreover garlic an aggressive enzyme for the patients releases, who they must thus avoid at all costs. All these symptoms correspond exactly to the myth of the Vampires, some can thus think that it is the base, even if it were studied well after the first accounts of vampires and that the people who were reached by it were not to thus be aware of the harmful effects of garlic and the sun on their health.

Sources

Daniel J Wattendorf, Kenneth H Kraemer, Xeroderma Pigmentosum in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2006

References

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