Xeroderma Pigmentosum, Causes and symptoms of Xeroderma Pigmentosum

Xeroderma Pigmentosum

  • Posted on- May 07, 2018
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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.

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.


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.

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.


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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