Xeroderma pigmentosum (XP)

Xeroderma pigmentosum (XP) is a rare genetic disorder that affects the skin and eyes. It causes the skin to be very sensitive to sunlight, leading to premature aging, skin cancer, and other eye problems. XP is caused by a defect in one of six genes that help repair DNA damage caused by sunlight.

The symptoms of XP vary from person to person, but they usually start in childhood. The most common symptoms include:

  • Sun sensitivity: The skin is very sensitive to sunlight and can burn easily.Premature aging: The skin ages prematurely and develops wrinkles, age spots, and other signs of aging.Skin cancer: XP is a high-risk factor for skin cancer, especially melanoma.Eye problems: XP can cause eye problems, such as photophobia (light sensitivity), blepharitis (inflammation of the eyelids), and cataracts.

Other symptoms of XP may include:

  • Hair loss: Hair loss can occur on the face, scalp, and other parts of the body.Teeth problems: Dental problems, such as enamel defects and tooth decay, are common in people with XP.Immune system problems: People with XP may have a weakened immune system, which makes them more susceptible to infections.

If you think you or your child may have XP, see a doctor for diagnosis and treatment. There is no cure for XP, but there are treatments that can help manage the symptoms and reduce the risk of skin cancer.Here are some additional things to know about XP:

  • XP is inherited in an autosomal recessive manner. This means that a person must inherit two copies of the mutated gene from their parents in order to develop the disorder.There is no test to screen for XP before a baby is born.XP is a lifelong condition.

Despite the challenges of living with XP, people with the disorder can live long and productive lives with proper management.

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