Xeroderma Pigmentosum: Causes, Symptoms, Daignosis, Prevention and Treatment - PowerPoint PPT Presentation

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Xeroderma Pigmentosum: Causes, Symptoms, Daignosis, Prevention and Treatment

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Xeroderma Pigmentosum is a genetic disorder identified by major sensitivity towards the ultraviolet radiation or the ultraviolet rays of the sun. – PowerPoint PPT presentation

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Title: Xeroderma Pigmentosum: Causes, Symptoms, Daignosis, Prevention and Treatment


1
Xeroderma Pigmentosum
2
What is Xeroderma Pigmentosum?
  • Xeroderma Pigmentosum is an autosomal recessive
    disorder that involves the DNA repair. It is a
    genetic disorder identified by major sensitivity
    towards the ultraviolet radiation or the
    ultraviolet rays of the sun. This kind of
    condition mainly affects the areas of the skin
    that are in constant exposure to the sun
    including the eyes. Xeroderma Pigmentosum is a
    very rare hereditary skin condition which is at
    high risk for developing into skin
    cancer. Individuals suffering from this
    condition are extremely advice against staying
    under the sunlight as their DNA repair has the
    inability to repair the damages caused by
    ultraviolet rays from the sunlight. Xeroderma
    Pigmentosum affects both male and female equally
    and without racial predilection. It can affect
    people globally and is usually recognized on the
    first to second year of life.

3
Causes of Xeroderma Pigmentosum
  • Xeroderma pigmentosum is a genetic disorder
    which occurs in an autosomal recessive pattern.
    This disease can be transferred on from one
    offspring to another in a family with the history
    of the disorder. For the disorder to be
    inherited, both parents should be a carrier of
    the defective gene. Xeroderma pigmentosum is the
    execution of mutation or alteration in nucleotide
    excision repair enzymes. The variation in the
    gene causes the inability to repair the damaged
    DNA caused by toxic chemicals.

4
Symptoms of Xeroderma Pigmentosum
  • In xeroderma pigmentosum, the skin or the areas
    of the skin in constant exposure to the sun
    including the eyes are affected. Neurologic
    deficiency is also expected in children who are
    suffering from this disorder. The symptoms of
    the skin in xeroderma pigmentosum basically go
    through three stages and such are 1st stage
    usually occurs during the 6th month of life where
    the skin is characterized by scaling, diffuse
    erythema and increased pigmentation that appears
    similar to a freckle. Children who are suffering
    with xeroderma pigmentosum have normal or healthy
    skin at the time of birth until the skin changes
    or until the 6th month of their lives.

5
Symptoms of Xeroderma Pigmentosum
Continue
  • 2nd stage is characterized by the development of
    telangiectasia, hyperpigmentation and atrophy of
    the skin. The changes in the skin make it similar
    to the appearance of skin in chronic
    radiodermatitis. Telangiectasia is not only seen
    on the areas of the skin that are exposed to the
    sun but also develops in unexposed areas
    including the buccal mucosa. 3rd stage is
    described with the development of multiple
    malignancies as well as with the development of
    basal cell carcinoma, squamous cell carcinoma,
    fibrosarcoma and malignant melanoma.

6
Treatment of Xeroderma Pigmentosum
  • Xeroderma pigmentosum has no known cure or
    treatment. The focus of management is geared
    towards the problem presented as a result of
    deficiencies brought by the disorder. UV rays
    should be avoided as much as possible, as it
    improves the prognosis for patient suffering from
    the disorder. Certain practices or methods are
    needed to be done in order to realize an improved
    prognosis and such include the following
  • Prohibiting outdoor activities during the day
  • Wear protective gears and clothes to cover from
    sunlight
  • Install protective films on the windows to filter
    out UV rays

7
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