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What is Xeroderma Pigmentosum?

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  • Written By: Mary McMahon
  • Edited By: O. Wallace
  • Last Modified Date: 10 November 2016
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Xeroderma pigmentosum is a very rare genetic condition characterized by extreme photosensitivity in the skin. Rates of incidence of this condition vary, with some populations appearing to be more vulnerable than others. The condition has been identified as a recessive trait, meaning that someone must inherit two copies of the defective gene in order to have xeroderma pigmentosum. Both men and women can be carriers, and men and women are at equal risk of having the condition.

There are several different forms of xeroderma pigmentosum, depending on which genes are involved. In all cases, the enzymes which are responsible for repairing skin cells damaged by ultraviolet radiation are defective in some way. This means that when skin cells are damaged by sun exposure, the body cannot repair them. As a result, patients develop a variety of dermatological symptoms.

The first sign of xeroderma pigmentosum may be a severe sunburn in an infant. Over time, the skin can undergo a variety of changes, with discolorations, growths, and changes in texture occurring. The skin may thicken or thin, darken or become lighter, and develop lesions. The more the patient is exposed to the sun, the worse the skin changes tend to be.

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The biggest complication of xeroderma pigmentosum is cancer. Patients with this condition are at a very high risk for developing skin cancers, and skin cancers are a leading cause of death for people with xeroderma pigmentosum. For this reason, patients are usually carefully monitored by a dermatologist throughout their lives, so that signs of abnormal cell growth can be quickly identified and addressed.

This condition cannot be cured, but it can be managed. Patients with xeroderma pigmentosum are usually advised to stay out of the sun, and to wear protection when they will be in environments with ultraviolet radiation. A number of support organizations hold night events, night camps, and other special events which are tailored to people with this condition, allowing patients to meet up with each other and share experiences with people who understand their condition.

Having a rare genetic condition can feel alienating for patients, especially when it causes physical changes which may attract attention, making social situations awkward. Patients with xeroderma pigmentosum can benefit from joining groups which advocate for patients, provide people with new information about treatments, and organize social events to allow patients to network. Parents of children with this condition should not blame themselves, as there is nothing which can be done to prevent the genetic lottery which causes a child to inherit the two defective genes, although parents may want to seek genetic testing and counseling to learn more.

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