Xeroderma Pigmentosum, which is generally referred to as XP, is a genetic disorder that makes a person’s skin sensitive to the UV rays that are in sunlight. The skin will damage very easily and then it is unable to repair itself. People who are diagnosed with XP generally develop tumors on their skin and eye damage from the sunlight as well. It is an autosomal recessive gene, which means both parents must be carriers of the gene in order for it to be passed along.
Statistics on Xeroderma Pigmentosum
1. XP affects 1 in 250,000 people within the general population base.
2. If Europe and the United States are separated from the general population sample, then US and European rates of XP would be 1 in 1 million people.
3. It is a genetic disorder that is more common in the Middle East and Japan more than other places in the world today. Incident rates in these areas are 1 in 40,000.
4. There number of known cases of XP in the UK: 100.
5. Four. That’s the age that skin cancer can begin to develop in children when they have a confirmed case of Xeroderma Pigmentosum.
6. People with XP are advised to visit with a dermatologist every 3 months, have regular eye checkups, and have a neurologist included on their treatment team.
7. Neurological problems occur in 1 of every 5 XP patients.
8. Without any sun protection, children with XP generally develop their first case of skin cancer by the age of 10.
9. The number of inherited forms of Xeroderma Pigmentosum that have been identified by researchers so far: 8.
10. XP has a gene frequency of 1:200.
11. Xeroderma Pigmentosum affects both genders equally, as well as all races and ethnicities within the general population.
12. There is no known cure for XP. Standard treatment protocols include high levels of skin protection, including clothing and sun block, when sun exposure becomes necessary.
13. The use of oral retinoids can help to decrease the occurrence of skin cancer in people suffering from Xeroderma Pigmentosum.
14. For those younger than 20 years of age, the prevalence of skin cancer is almost 5,000x what would be expected in the general population.
15. Nonmelanoma skin cancer risks may be increased by 150x when there is XP confirmed as a diagnopsis.
16. The average lifespan for someone with XP who does not have neurological degeneration is 37. When neurological degeneration is present, the average lifespan is 29.
Risk and Treatment
There is also a higher risk than normal for neurological problems to develop in patients who have Xeroderma Pigmentosum. Most of the issues that come with nerve disorders are generally related to the amount of skin that is exposed to the sun, but may also be throughout the entire body. Skin cancer is the #1 issue of this disorder, but people with XP can develop cancer wherever light exposure occurs, from the tip of the tongue to the top of the scalp.
It is the areas around the face and eyes, however, that are most at risk when XP is present. If the eyes are not protected from the UV rays of the sun, then they can become irritated, bloodshot, and the cornea may even become cloudy in some circumstances. One of the unique features of Xeroderma Pigmentosum is that it often causes a person’s eyelids to be thinner than normal and turned outward or inward in an unusual way. These factors all contribute to higher levels of eyesight impairment in this demographic when compared to the general population.
For parents, there are two general ways to determine if XP might be present. The first is the development of a severe sunburn that stays red and blistered for several weeks after a sun exposure that can be as little as 5 minutes. Some children might tan instead of burn with slight sun exposure. Almost all children with XP, however, by the age of 2 will develop freckles in their exposed skin areas, which is very rare for young children who do not have this disorder.
Issues and Effects
The prevalence of Xeroderma Pigmentosum may have led to the development of the stories of vampires within certain societies. People with this condition are typically advised to stay inside during the day, limit sun exposure as much as possible, and be outside at night as much as possible to get out of the house. Because it is the UV rays of the sunlight that are problematic, the light exposure inside a home is generally safe for people with XP because many rays are blocked by windows.
One of the biggest issues that people with Xeroderma Pigmentosa face is the development of a Vitamin D deficiency. These vitamins are included in milk and other food products, but the body uses the natural process of the sun to create higher levels of this needed vitamin within the body. Because sunlight exposure should be severely limited, not enough Vitamin D is created naturally and so all children with this condition should be on some sort of vitamin supplement so they can continue hitting their development markers.
Outside of proactive preventative treatment and hyper vigilance of skin monitoring to watch for tumor and cancer development on the skin, not much can be done right now to treat Xeroderma Pigmentosa. Gene therapies on the horizon look to be promising, but have not arrived in modern medicine as of yet. For now, the best way to deal with XP is to cover up the skin, make sure there are sun blocks that are used, and provide eye protection if someone must go outside in the sun.
It may not be an easy life when XP is present, but with advances in medical science happening every day, a cure may not be far away. Until then, stay inside, protect the skin, and enjoy the fresh night air whenever possible.