Xeroderma Pigmentosum

Xeroderma Pigmentosum (XP) is a rare genetic disorder that affects the body's ability to repair DNA damage, particularly damage caused by ultraviolet (UV) radiation. Individuals with XP are extremely sensitive to sunlight and have a high risk of developing skin cancer and eye disease.

Causes

XP is caused by mutations in genes that are involved in nucleotide excision repair, a process that fixes DNA damage. There are eight known types of XP, each associated with a different gene mutation. These include XPA, XPB, XPC, XPD, XPE, XPF, XPG, and XPV.

Symptoms

The symptoms of XP can vary widely, but they often include severe sunburn after minimal sun exposure, freckling at an early age, rough-surfaced growths (actinic keratoses), and skin cancers. Other symptoms can include problems with the nervous system and eyes.

Diagnosis

Diagnosis of XP is based on the symptoms and confirmed by genetic testing. The testing can identify the specific gene mutation causing the disorder.

Treatment

There is currently no cure for XP. Treatment focuses on managing symptoms and preventing skin damage. This can include avoiding sun exposure, using sunscreens, and regular skin examinations to detect and treat skin cancers early.

Prognosis

The prognosis for individuals with XP varies. Some people with the disorder live into adulthood, while others may have severe neurological problems and die at an early age.

See also

• DNA repair
• Skin cancer
• Genetic disorder

References

Xeroderma Pigmentosum Resources
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