; Xeroderma Pigmentosa (PowerPoint)
Documents
Resources
Learning Center
Upload
Plans & pricing Sign in
Sign Out
Your Federal Quarterly Tax Payments are due April 15th Get Help Now >>

Xeroderma Pigmentosa (PowerPoint)

VIEWS: 92 PAGES: 11

  • pg 1
									By: Jennifer Ryan, Mark Goldie,
 Rachel West, and Gretchen
           Schneider
         The type of this
       genetic disorder is
      autosomal recessive.




 Many people with this
 disorder die from skin
  cancers at an early
age. If not, they have a
  chance at a normal
  lifespan, as long as
      they have no
neurological problems.
Key:
Circles: Females
Squares: Males
Arrow: patient with
XP
Half solid symbol:
obligate
heterozygous
Shaded Symbol:
affected with XP
Un-shaded symbol:
not affected with XP
How Xeroderma Pigmentosa
       is Inherited
• XP is an autosomal recessive disease,
  meaning that the child would have to
  have two of the recessive XP genes to
  inherit this disease. The parents have to
  be carriers of this gene.
• Doctors measure DNA repair factor from skin or
  blood samples.
• Physical exams; clouding of cornia, keratits, lid
  tumors, blepharitis, culture of skin fibroblasts
• Scientists are working on finding out what exact
  gene causes Xeroderma Pigmentosa, but until
  then they rely on symptoms of the disease to
  make a diagnosis.
                   Symptoms
• Sunburn that does not heal after just a little bit of
  sun exposure
• Blistering after just a little bit of sun exposure
• Spider-like blood vessels under the skin
• Patches of discolored skin that gets worse
• Crusting of the skin
• Scaling of the skin
• Oozing raw skin surface
• Discomfort when being in bright light (photophobia)
Treatment for XP includes:

•   Frequent Skin examinations
•   Removing cancerous growths
•   Isotretinoin
•   Cream
•   Frequent Eye Exams
•   Treatment of Neurological Problems
•   People with XP must avoid sunlight completely. Must
    wear a sunscreen with high SPF and protective
    clothing whenever in the sun or flourescent light bulbs.
          Genetic Counseling
• You must talk to a genetic counselor if you have
  a family history of XP, before you have children.
• Genetic counselors can give tips for protecting
  children, daily protection outdoors, and what
  the parents can do to help with this disease.




Remember: XP is a very hard disease to live with.
          Current Research
• One new treatment is utilizing
  bacteriophage T4 endonuclease 5 or
  (T4N5) in a lipsomal lotion is currently in
  clinical trials.
• Gene therapy for XP also seems to have
  much potential for future treatment.
                   This was a young woman 18 years old, and Hispanic.

1.) Q: Can damage to the skin be healed once a patient has been burned?
 A: She had not been burned if you are asking about whether a fire causes burns or the sunlights
damaging UV light. My understanding of her disease was that any damage incurred was lasting and
irreversible. It will scar forever.
2.) Q: How long can someone stay in the sun without getting burned?
A: Again, it is a matter of individuality, but her mom said that she could not be in the sun for any
amount of time, for it would cause blistering and pain and disfigure any area exposed. So, I would
say any one with this disease could be in the sun 0 minutes.
3.) Q:What do affected patients use/ wear to protect them from the sun?
A: Sunglasses, uv protective clothing, blinds over the windows. She presented a problem in that
she was in intensive care in a room with a skylight and we felt we needed to cover the skylight to
avoid any damage to her. She was in with this disease as well as one called Stephens johnsons
disease, and had large areas of her body with skin sloughing off and infected.
4.) Q: At what age do symptoms start appearing?
A: Her symptoms were freckles at 8, blisters on her lips and nose when in the sun. Everyone who
has this presents at different times depending on the DNA issues and genetics, and their immune
system as well as their environment.
5.) Q: Does Xeroderma Pigmentosa affect your life expectancy?
A: I would say yes since the rate of cancer incidence is high with this disease. I don't know the
statistics, but I do know that because the skin is traumatized through several layers ,they are more
prone to cancer, which definitely shortens their lifespan if they get it.
                        Works Cited
anunderprivilegedarticle.wordpress.com. 23 Jan. 2009

                                                  om/2008/03/28/the-unconscionable-
       <http://anunderprivilegedarticle.wordpress.c

       divine-blacks-conjure-new-skin-disease-xeronoma/>.

ASCO. Xeroderma Pigmentosa cancer types. 23 Jan. 2009

                     n
       <http://w ww.ca cer.net/patient/Cancer+Types/Xeroderma+Pigmentosa>.

phobos.ramapo.edu. 23 Jan. 2009 <http://phobos.ramapo.edu/~pbagga/xpcs.htm>.

    llrefer.com. 23 Jan. 2009 <http://health.allrefer.com/health/telagiectasia-
www.a

       legs.html>.

     liverdeals.com. 23 Jan. 2009 </http://w ww.de
www.de                                           livereddeals.com/BioSun.asp>.

       int.
www.esa. 23 Jan. 2009

                       i
       <http://w ww.esa.nt/esaCP/SEMZW8XO4HD_France_1.html>.

   v                                      v
www. ampyres.ca. 23 Jan. 2009 <http://w ww. ampyres.ca/portal/booksvampire-

       heinrich-august-ossenfelder>.

www.wikilearning.com. 23 Jan. 2009

       <http://w ww.wikilearning.com/tutorial/enfermedades_metabolicas_producidas_p

       or_enzimas_defectuosas-xeroderma_pigmentosum/10545-20>.

A.D.A.M. Inc. ÒXeroderma Pigmentosa.Ó2009. Bethesda, Maryland. 5 January 2009.

                  n
       http://w ww. lm.nih.gov/medlineplus/ency/article/001467.htm


ÒUnderstanding Xeroderma Pigmentosum.ÓPatient Information Publicatoin. 2006.

       National Institute of Health. 2006.

                                           tient_education/pepubs/XP7_17.pd
       <http://clinicalcenter.nih.gov/ccc/pa                               f>

								
To top