XP

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 types are XP-A through XP-G and a variant form (XP-V).

Symptoms

Symptoms of XP can vary widely among individuals. They typically begin in infancy or early childhood and may include severe sunburn after minimal sun exposure, freckling in sun-exposed areas, dry skin (xeroderma), changes in skin pigmentation, and eye problems such as photophobia (sensitivity to light), conjunctivitis, and corneal ulceration.

Diagnosis

Diagnosis of XP is based on clinical symptoms and confirmed by genetic testing. Other tests may include a skin biopsy to look for abnormal cells and a DNA repair test to measure the body's ability to repair UV-induced DNA damage.

Treatment

There is currently no cure for XP. Treatment focuses on managing symptoms and preventing skin damage. This may include strict sun protection, regular skin examinations, and early treatment of skin cancers. Some individuals may benefit from gene therapy or other experimental treatments.

Prognosis

The prognosis for individuals with XP varies depending on the type of XP and the individual's exposure to UV radiation. With careful sun protection, some individuals can live into adulthood. However, many individuals with XP develop multiple skin cancers and other health problems, which can reduce life expectancy.

See also

• DNA repair
• Skin cancer
• Genetic disorder

References

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