XERODERMA PIGMENTOSUM. FAIH OLUWATOSIN ILORI 1411 CASE 4. TABLE OF CONTENTS. DEFINITION. Causes. Symptoms. Exams and tests Treatment Refrences. DEFINITION.
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Xeroderma pigmentosum is an autosomal recessive disorder. This means you must have two copies of an abnormal gene in order for the disease or trait to develop.
Ultraviolet light, such as from sunlight, damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in persons with xeroderma pigmentosum, the body does not fix the damage. As a result, the skin gets very thin and patches of varying colour (splotchy pigmentation) appear.
The condition also causes spidery blood vessels in the skin (telangiectasia) and skin cancer. Skin cancer often occurs before the child is 5 years old.