Xeroderma Pigmentosum
#14
This past week in school, my class was learning about mutations, and I came across a hereditary disorder caused by a mutation that inactivates a protein that repairs DNA damaged by UV light. This rare disorder is called xeroderma pigmentosum, or XP. People with XP are 10,000 times more likely to get skin cancer than normal people.
Symptoms
People with XP are very sensitive to UV radiation (the sun and certain types of light bulbs), since the DNA damaged by UV cannot be repaired. People with XP develop burns (from mild to severe) or a tan on areas where the skin has been exposed to the sun, leading to freckles called lentigines. Other symptoms that appear when exposed to the sun too much include dry skin, poikiloderma (increased/decreased skin pigmentation), skin tissue thinning, and multiple skin cancers.
People with XP might also have extremely sensitive eyes to UV radiation, which is called photophobia. Dry eye, eyelashes falling out, thin eyelids, and cancers around or in the eyes can affect people with XP.
Some people with XP (25-30%) also have neurological issues, such as hearing loss, difficulties with movements, learning disabilities, and seizures.
Treatment
Currently, there is no treatment for XP as a whole, but things can be done to manage XP and treat the damage done to people with XP. People with XP should undergo regular checkups with a dermatologist and an ophthalmologist to treat the damage to their skin and eyes, such as detecting and removing cancers. Preventing damage from UV radiation can be done by wearing protective clothing, avoiding the sun when possible, and eliminating sources of UV radiation from a person’s home.
Sources: