XP Family Support Group
www.xpfamilysupport.orgThe XP Family Support Group is dedicated to improving the quality of life of those affected with Xeroderma Pigmentosum through education and support services, researching effective treatments.
What is XP?
Xeroderma Pigmentosum “XP” is a rare inherited disease affecting both males and females. It causes a person to be extremely sensitive to the damaging effects of ultraviolet radiation. Undiagnosed and untreated, XP can lead to the early onset of skin cancer and blindness. In addition, approximately 20% of people with XP will also develop progressive neurological disease.
How is XP Diagnosed?
Often the first people to suspect that something is “wrong” are the parents. Many parents notice that in early infancy around 1-2 years of age their children will have unusually dark freckles (lentigos) or will have had severe sunburns after only being in the sun a few minutes. A thorough skin exam by a dermatologist, along with a small skin biopsy for laboratory testing, is the standard method for diagnosing XP. Xeroderma Pigmentosum can usually be conclusively diagnosed by measuring the DNA repair function from the skin cells obtained from the biopsy.
Symptoms
Early onset of freckling (before age 2) especially on sun exposed skin, severe sun burns after only a short duration of sun exposure or exposure to ultraviolet lights. Some people with XP may develop sun burns even in shady areas.
- Blistering or freckling after minimal sun or ultraviolet exposure
- A dry, premature-aged appearance to the skin and lips
- Photosensitivity of the eyes (becomes red and sore when exposed to sunlight
- Early onset of skin cancer in any skin, including the tip of the tongue