FAQ - Xeroderma Pigmentosum
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xeroderma pigmentosum?


phenotypic characteristics. how do you know someone has xeroderma pigmentosum
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The baby would start showing that he/she is HIGHLY sensitive to the sun, while the skin is at least freckled, and depending on how serious the condition is, the skin will show discoloration and large purplish spots.
Sometimes you can see their veins in a spider-web like manifestation. Any signs of sun sensitivity should be taken seriously and a physician should make a diagnosis, and perhaps perform a skin biopsy.  (+ info)

Xeroderma Pigmentosum?


I'm in the process of writing a book and my lead character has XP, but I'm trying to get a more indepth look at it. I'm trying to find out if there are certain meds that they are put on. If there is anyone out there who is reading this who has XP or knows someone who has XP, then PLEASE contact me. Thank you.
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Here's a very in-depth site:
http://www.emedicine.com/DERM/topic462.htm

I hope it helps you with your book!  (+ info)

what kind of damage is not repaired in patients suffering from xeroderma pigmentosum?


in humans, xeroderma pigmentosum is a disorder of the nucleotide excision repair mechanism. Affected individuals are unable to repair DNA damage caused by ultraviolet light. therefore, what kind of DNA damage is not repaired in patients suffering from xeroderma pigmentosum?

a.oyrimidine dimers
b.mismatch errors
c.methylation of purins
d.telomere shortening
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The answer is A, but it is misspelled. Should be Pyrimidine Dimers.  (+ info)

What is going to lead to a cure for Xeroderma pigmentosum. Is it genetic engineering or what?


It is a hereditary disease and it is definitely not genetic engineered. The disease was discovered long before science ever knew about genes. As for a cure, I don't know. I use to work as a chemist in a large pharmaceutical company. Drug companies invest money in drugs that will treat common diseases. For examples, a drug (e.g. Zocor) for high cholesterol or for diabetes (e.g. metformin). These are chronic disease so the patients have to use them for the rest of their lives, which means more money for the drug companies - the so-called "cash cow." Xeroderma Pigmentosum (XP) is a very rare disease which gets very little attention. Drug companies don't have interests in developing a drug to treat a disease which only affects a couple of thousand people globally. There is no profit in it. Like they say "money makes the world go round." In the movie "The Others," starring Nicole Kidman, both children suffer from XP. This was the only time I have ever heard XP mentioned in the media.

To cure the disease requires genetic manipulation. XP results from the absence of an enzyme which repairs DNA strands. The Sun rays damage our skin but the enzyme repairs it, which is way patients with XP can not tolerate the sunlight.  (+ info)

can people with Xeroderma Pigmentosum, and if so is massage cryotherapy helpful to this condition?


?  (+ info)

What supplements do people with Xeroderma Pigmentosum take? Do they need shots?


yep regular shots  (+ info)

Does anyone know any good sites all about on xeroderma pigmentosa?


Like what it is, symptoms, treatments, preventions, etc.
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I don't know much about XP, however I'm pretty good at researching sites that aren't full of nightmares (spyware, malware, trojans, viruses, etc.) that will hopefully give you safe sites to learn from. I started by looking at the XP Org site, unbeknownst to me Brad Paisley and his wife are huge advocates and supporters of researching and funding for the disease. Here are some sites for you:

http://www.xps.org/
http://www.nlm.nih.gov/medlineplus/ency/article/001467.htm
http://www.emedicine.com/DERM/topic462.htm
http://www.umm.edu/ency/article/001467.htm

I hope these links offer all of what you are looking for. Best of luck.  (+ info)

What is a disease that is good for a research project?


I already have: Crohn's disease.
Hepatitis C
Celiac Sprue
Treacher Collins Syndrome
Osteomylitis
Elephantitis
Cystic Fibrosis,
Xeroderma Pigmentosum
Yellow Fever

*Please, no cancers or STDs. (Everyones doing that)
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try malaria, you would be surprised how prevalent it is world wide.  (+ info)

Does anyone know of any OB/GYNs who have hours at night?


I am really sensitive to the sun and burn really easily. (I have something like xeroderma pigmentosum meaning I can't take ultraviolet light. It's a totally natural condition!)
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There ought to be someone. Have you tried searching online? I am sure you are not the only one with that condition. It's not like that is something that only happens to men!  (+ info)

Xeroderma Pigmentosa


Xeroderma Pigmentosa is the condition in which someone is allergic to light, yes? I would like to know whether this applies to light bulbs and other form of lighting that does not comer from the sun, and what precautions one has to take to keep someone with this condition safe.
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Definition
Xeroderma pigmentosa is a rare condition passed down through families in which the skin and the tissue covering the eye is extremely sensitive to the ultraviolet part of sunlight.

Causes, incidence, and risk factors
Ultraviolet light -- such as that found in sunlight -- damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in persons with xeroderma pigmentosa, the body does not fix the damage. As a result, the skin gets very thin and patches of varying color (splotchy pigmentation) appear.

http://www.walgreens.com/library/contents.html?docid=001467&doctype=1
  (+ info)

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