Xeroderma Pigmentosum: Children Of The Night

It was 8:30 am in the morning. I had just got to work in preparation for another adventurous day of diagnosis, treatment and puzzles. Just as I was about opening a magazine on my table, I had a knock on my door. Without reluctance, I told whoever was at the door to come in.

A woman, 6 ft tall, with her child who is just four years, old stepped into my office. After exchange of commentaries, she told me what was wrong with her child. This time, it was not the normal skin rash, measles, eczyma or ringworm infection that I normally encountered as a dermatologist.

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This time it was something entirely different. She complained to me that her child always reacts to sunlight. On examination, I found out that the child had sunburns and that there was an abnormal growth on his skin. After a thorough diagnosis, results revealed that the child had a genetic condition called Xeroderma_ Pigmentosum.

Xeroderma pigmentosum# is a rare genetic condition caused by inability of the body to repair DNA damage of epithelial cells (cells of the skin) caused by ultraviolet (UV) light. The body is constantly exposed to substances which can harm our DNA. DNA (deoxyribonucleic acid) is a genetic material that house the hereditary trait of an organism.

View image of a person affected with Xeroderma Pigmentosum here (VIEWERS DISCRETION ADVICED)

Cause

Xeroderma pigmentosum is caused by deficiency of nucleotide excision repair enzymes that are responsible for repair of damage caused by harmful substances such as ultraviolet rays. This condition is usually present in children. Normally there is a tendency for DNA damage when the skin is exposed to ultraviolet rays.

This damage is however repaired by repair enzymes which detect this damage and make all necessary corrections. In the absence of these repair enzymes, the damaged caused by ultraviolet rays can no longer be repaired. This leads to a variety of skin conditions which is harmful to health.

Signs and Symptoms

A major symptom of Xeroderma pigmentosum is blisters on the skin. Blisters are small bubble-like elevations between the layers of the skin which contains watery fluid or blood. The blisters that form in Xeroderma pigmentosum are due to the damaging effects of the high temperature of the ultraviolet rays.

Skin cancer and increased photosensitivity is another major symptom of Xeroderma pigmentosum. The absence of DNA repair enzymes in the skin cells make the skin cells exceedingly vulnerable to mutations. Mutations are abrupt changes in a cells DNA. These changes are capable of disrupting the normal growth and development of the cells giving rise to a condition called cancers. Skin cancers or melanomas are a major risk of Xeroderma pigmentosum.

Another picture of Xeroderma Pigmentosum patient can be viewed here (VIEWERS DISCRETION ADVICED)

Another major symptom of Xeroderma pigmentosum is dry keratosis. Keratosis is an abnormal growth of keratin on the skin. Keratins are proteins found in the hair and skin. Sunburns are also common occurrences in children with Xeroderma pigmentosum.

Treatment

The best treatment for Xeroderma pigmentosum is by avoiding exposure to sunlight. This can be done either by wearing sun protective clothings. This include wearing facemasks, hand gloves, long sleeved shirts and long trousers. Total advoidance of sunlight is usually the best recommendation.

Children who have Xeroderma pigmentosum are usually not allowed to come out during the day. They only come out at night. Because of this, they are also called children of the night. Skin cancer surveillance every three months by a dermatologist is also highly recommended.