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Xeroderma Pigmentosum

Xeroderma Pigmentosum. By: Debra Garfield, Ilona Gorodyuk, Melanie Thompson and Kanethia Williams. What is it?.

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Xeroderma Pigmentosum

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  1. Xeroderma Pigmentosum By: Debra Garfield, Ilona Gorodyuk, Melanie Thompson and Kanethia Williams

  2. What is it? Xeroderma Pigmentosum (XP) is extreme sensitivity to UV light because of an impaired DNA repair system. The cells are unable to repair themselves after being exposed to UV light, including sunlight. Someone with XP can go out in the sun for as little as two minutes; as the sun shines on his or her skin, the sun damages DNA in the skin. A normal body is able to repair this DNA. With XP the DNA damage cannot be repaired . UV exposure in XP patients then, results in severe burns and cancer which is usually how the people effected die. Xeroderma Pigmentosum

  3. History • Xeroderma Pigmentosum (XP) was described in 1874 by Ferdinand Ritter von Hebra and Moritz Kaposi, both dermatologists • Kaposi (1837-1902) was born in Hungary to very poor parents, but went on to study medicine in Vienna in 1856. He began working for Hebra and eventually married his daughter. • Hebra (1816-1880) was the founder of Vienna school of Dermatology and is known for writing one of the most influential books on dermatology of all times, Atlas derHautkrankeiten (Atlas of skin diseases)

  4. Xeroderma pigmentosum is an autosomal recessive inheritance disease. • Both parents must have the gene Genetic causes • In XP the nucleotide excision repair (NER) enzymes are mutated which causes a reduction or even lack of the repair enzymes. • 7 repair genes, XPA through XPG, cause different severity. • The mutation stops UV damage from being repaired. • This leads to cancerous cells or cell death. If both parents are heterozygous then their offspring has 1/4th a chance of being normal/unaffected, ½ a chance of being carriers/unaffected, or 1/4th a chance of being affected.

  5. Symptoms • Eye problems occur in 80% of people: easy irritation, blood shot, cloudy • Dryness of skin • Sunburn quick after short exposure • Early aging of the skin • Stage 1 symptoms • Skin exposed to sun: • Scaling • Freckling • Dark patches form • Progression of rash • Appearance may decrease in winter • Stage 2 • Irregular light or dark patches • Thinner skin • Spider like blood vessels visible • Stage 3 • Skin cancer occurs more for these people • Solar Keratoses- rough patch of skin from sun exposure

  6. How does it manifest? • Usually manifests itself by 1-2 years of age. • Most frequently shows up on the face and hands. In severe cases the trunk of the body

  7. Who’s most likely to get it??? • The frequency of this genetic disease is about 1 case per 250,000 people in the US. Its most common in Japan where there is about 1 case per 40,000. • It has been reported in people of all races and gender • It is usually detected between the ages of 1 and 2. Even newborn babies can show signs of this genetic disease.

  8. Diagnoses • Typically, Xeroderma pigmentosum (XP) is detected in early infancy, within the first 2 years of life. • Conclusive diagnosis of XP can be obtained by the measurement of the DNA repair factor from skin or blood samples • The diagnosis of XP is made clinically based on skin, eye, and neurologic manifestations.  -Skin:  The first clue to the diagnosis of XP occurs when a child suffers from severe sunburn after their first sun exposure. Marked freckling of the face of a child before age two years is typical of XP. Most individuals with XP develop dry skin and poikiloderma -Eyes:  Abnormalities are limited to UV-exposed portion of eyes, including cornea, lids and conjunctiva. With continued UV exposure loss of lashes and increased pigmentation develop on the lids as a result. Atrophy of the skin of lids may occur, causing a complete loss of lids in severe cases. Nervous system:  30% of affected individuals experience typical neurologic manifestations including enlarged ventricles and thinning of the cortex in the brain, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment. These manifestations worsen slowly over time and may appear later than changes to the skin.   • In order to aid in diagnosis of XP, a detailed family history which describes the “Genetic relatedness between individuals descended from at least one common ancestor” is necessary (Kraemer, 2008).

  9. Treatments • Sun avoidance/window tinting of cars and homes • Protective clothing • Sunscreens with SPF of 30 or higher • Frequent self skin examinations – dermatologist every 3-6 months • Biopsy and excision • Rx: isotretinoin…a vitamin A derivative that may prevent formation of new cancers

  10. Effects • More likely to die at early age due to cancers • Alternative life style • Job • Socializing • Daily activities • Protective measures must be taken • Alternative education

  11. Informational Video(To access video right click and go to open hyperlink) http://www.youtube.com/watch?v=66kBbF8dc48

  12. Children of the moon. (2001). Retrieved from http://ds9.ssl.berkeley.edu/lws_gems/4/uve.htm • Diwan, A.H. (2008, October 07). Xeroderma pigmentosum. Retrieved from http://emedicine.medscape.com/article/1119902-overview • "Ferdinand Ritter von Hebra." Wikipedia - The Free Encyclopedia. Retrieved from http://en.wikipedia.org/wiki/Ferdinand_Ritter_von_Hebra>. • Kraemer, MD, Kenneth H. "Xeroderma Pigmentosum." GeneTests at NCBI. 04 22 2008. The National Center for Biotechnology Information, Retrieved from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene∂=xp • Lewy, B. , & Stockman, J. . (2008, November 29). When Dark, tinted windows are legal. Retrieved from http://newyorkvisionassociates.com/wordpress/?p=142 • Manning, R.T. (n.d.). Moriz kohn kaposi. Retrieved from http://www.whonamedit.com/doctor.cfm/621.html • Xeroderma pigmentosum. Retrieved from http://www.mamashealth.com/skin/xero.asp • "Xeroderma pigmentosum." DermNet NZ. 15 06 2009. New Zealand Dermatological Society Incorporated, Retrieved from http://dermnetnz.org/systemic/xeroderma-pigmentosum.html • (2006, March 15). Xeroderma pigmentosum. Retrieved from http://images.google.com/imgres?imgurl=http://www.wikilearning.com/imagescc/10545/Ejemplo3.jpg&imgrefurl=http://www.wikilearning.com/tutorial/enfermedades_metabolicas_producidas_por_enzimas_defectuosas-xeroderma_pigmentosum/10545-20&usg=__o2-svXP2YgV8ZwRtzd 5K6qdQqZk=&h=631&w=457&sz=60&hl =en&start=6&tbnid=cnyE05x9QJwr TM:&tbnh =137&tbnw=99&prev=/images%3Fq%3Dxeroderma%2Bpigmentosum%26gbv%3D2%26hl%3Den References

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