The only risk factor associated with Xeroderma Pigmentosa is a positive family history of the condition.
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).
The signs and symptoms associated with Xeroderma Pigmentosa may include:
The diagnosis of Xeroderma Pigmentosa involves the following tests and procedures:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
The possible complications associated with Xeroderma Pigmentosa include:
Xeroderma Pigmentosa is a skin-related genetic disorder where the affected individual needs complete protection from sunlight. The treatment measures for the disorder may include:
Currently, there are no specific methods or guidelines to prevent Xeroderma Pigmentosa since it is a genetic condition.
Even though Xeroderma Pigmentosa cannot be prevented, the aggravation of symptoms can be avoided by strictly limiting or even totally avoiding sun exposure.
It is very important for individuals with Xeroderma Pigmentosa to regularly follow up with their physician to prevent progression of the condition to skin cancer.
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