Xeroderma Pigmentosum

It is a rare inherited disease which causes extreme sensitivity to the sun`s UV rays. Those suffering from this disease must get themselves protected from sunlight otherwise their eyes and skin might get severely damaged. The damage caused might lead cancers of the eye and skin. This disease has been found to occur in every ethnic group worldwide. It is caused by a cellular hypersensitivity to UV light as a result of a defect in the DNA repair system. The disease can be diagnosed in the laboratory by measuring the DNA repair defect. The test has to be performed on skin or blood obtained from the patient.

Cause

The traits that a person inherits from his parents and which when combined leads to an unusual sensitivity to the damaging effects of UV light. Secondly, exposure to sun also leads to the changes in eyes and skin.

Symptoms

The disease spreads in three stages. The first stage surfaces around six month after the disease strikes the person. The symptoms in the first stage include reddening of the skin on the face with the appearance of scaling and freckling. The appearance of irregular dark spots also begins. These changes in the skin progress to the neck and lower legs. During the winter season these changes might diminish. If one gets exposed to sun over a period of time, the second stage occurs which is characterized by poikiloderma. The third stage is characterized by the development of solar keratoses and skin cancers. This occurs in sun exposed areas such as face. It may also result in other complications such as problems of eye and neurological problems.

Treatment

As of now there is no cure for this disease. The main purpose of the treatment is to protect oneself from UV exposure in order to prevent further damage to the skin.

Patients of this disease should follow certain precautionary measure:

• They should follow sun avoidance methods. The patients should wear protective form of clothing and apply sunscreen with SPF of thirty or more. One should avoid outdoor activities and if possible venture out at night.
• One must get an examination done from a dermatologist at least every three to six months. If one sees any suspicious growth a biopsy must be conducted.
• Eyes should be frequently examined by an ophthalmologist and up till the age of twenty one must get tested for neurological problems.