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Forum Name: Dermatology Topics

Question: Query on XP (Xeroderma pigmentosum)


 shaan - Tue Mar 31, 2009 5:48 am

Hi,
I am posting this for my nephew. He is 2 years old. When he sees any form of light, he turn his face away from the source of light, be it sunlight or light coming from a tube or a bulb etc. His eyes also become red after travelling for sometime. He also has got a series of black dots on his nose which extends below his eyes. The dots appeared only when he was around 1 year old. We had shown this to a lot of doctors. They gave some medicines mostly eye drops which did not improve the condition. Recently when we showed him skin specialist, he told us it might be a case of XP (Xeroderma pigmentosum). I just referred in net regarding this disease. It was written that this is an inherited disease. But there is no one in our family who has this disease. Could there be anything wrong in doctors diagnosis? There is nothing else wrong with the kid. He has no nerve disorder and he is very active. Only thing is that he gets fever very often. Could you please suggest is there is there any further diagnosis or test that we can do to confirm the disease?
 John Kenyon, CNA - Sun Apr 05, 2009 8:54 pm

User avatar Hello--

While the symptoms certainly could fit an XP diagnosis (and the occasional fevers are especially suggestive of XP), the doctor hasn't apparently made the determination yet, and it would require some genetic testing to be certain of the diagnosis. XP can be missed because it, like many heritable disorders, it can seem to skip any number of generations, with the defect being present but not manifesting, or being so mild in its manifestation that it passes without notice.

Some other disorders can cause similar symptoms and they need to be ruled out as well. Photosensitivity can be the calling card of several disorders, including several rheumatoid types, including lupus. All these need to be sorted out by careful testing. Hopefully the dermatologist is up to this. If not, and if he doesn't refer to a genetecist, then a second opinion would be in order. If your nephew does, in fact, have XP, he may be at greater than normal risk for certain cancers (mostly skin cancers) and some other problems. XP can be relatively mild, and yet photosensitivity can be a difficult thing to manage with a small child.

I hope this is helpful to some extent. Please follow up with us as needed. Good luck to you and to your nephew.

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