D2I2.
genetic

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function and , may also occur. include a high risk of skin cancer, with about half having skin cancer by age 10 without preventative efforts, and cataracts. There may be a higher risk of other cancers such as brain cancers.

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Symptoms — what it feels like

  • ·Severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin, changes in skin pigmentation

Causes — why it happens

  • · disorder ( )

How it's found

  • ·Based on symptoms and confirmed by testing

Prevention

  • ·No cure available

Treatment

  • ·Completely avoiding sun or UV rays, retinoid creams, vitamin D

Complications

  • ·Skin cancer, brain cancer, cataracts

Outlook

  • ·Life expectancy is variable and depends on involvement, geographical location and access to treatment. In optimal circumstances it can be normal.
Plain-language summary adapted from Wikipedia. Not medical advice.