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

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Xeroderma Pigmentosum
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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.

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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.

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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 are1st 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.

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Symptoms of Xeroderma Pigmentosum
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• 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.

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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

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