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Xeroderma Pigmentosum

Xeroderma Pigmentosum. By Erin Smith 2/26/09. Xeroderma Pigmentosum. Autosomal recessive genetic disorder Inability to repair damage of ultraviolet rays to skin Usually found at a very young age (1-2 years old) Six times more common in Japanese people than in any other group

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Xeroderma Pigmentosum

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  1. Xeroderma Pigmentosum By Erin Smith 2/26/09

  2. Xeroderma Pigmentosum • Autosomal recessive genetic disorder • Inability to repair damage of ultraviolet rays to skin • Usually found at a very young age (1-2 years old) • Six times more common in Japanese people than in any other group (http://en.wikipedia.org/wiki/Xeroderma_pigmentosum)

  3. Symptoms of XP • Severe sunburn/blistering after short sun exposure • Many freckles at a young age • Thin and excessively dry skin • Dark spots on the skin • Early aging of the lips, skin, eyes, mouth, and tongue • Spidery blood vessels http://en.wikipedia.org/wiki/Xeroderma_pigmentosum

  4. Cause of XP • Metastatic malignant melanoma • Squamos cell carcinoma • Autosomal recessive genetic disorder • Nucleotide excision repair enzymes are mutated • Reduced and/or eliminated number of NER enzymes • Disorder leads to cancer and tumors http://en.wikipedia.org/wiki/Xeroderma_pigmentosum

  5. Treatment of XP • Cryotherapy • The removal of heat from the body • Fluorouracil • Pyrimidine analog used to treat cancer • Reduced exposure to sun’s UV rays http://en.wikipedia.org/wiki/Fluorouracil http://en.wikipedia.org/wiki/Xeroderma_pigmentosum http://en.wikipedia.org/wiki/Cryotherapy

  6. Xeroderma Pigmentosum • Child with XP • Formation of many freckles at young age • Irregular dark spots http://genetica.zip.net/images/Xeroderma.jpg http://en.wikipedia.org/wiki/Xeroderma_pigmentosum

  7. Xeroderma Pigmentosum • Less than 40% of patients survive beyond the age of 20 • Milder cases may survive beyond middle age • Six times more common in Japanese people than any other group

  8. Tests/Diagnosis • Eye exams may show: • Clouding of the cornea • Keratitis • Lid tumors • Blepharitis http://www.nlm.nih.gov/medlineplus/ency/article/001467.htm

  9. Tests/Diagnosis • Before birth: • Amniocentesis • Chorionic villous sampling • Culture of amniotic cells http://www.nlm.nih.gov/medlineplus/ency/article/001467.htm

  10. Tests/Diagnosis • After Birth: • Culture of skin fibroblasts • Skin biopsy http://www.nlm.nih.gov/medlineplus/ency/article/001467.htm

  11. XP in Society • Society does not discriminate against those with xeroderma pigmentosum • Unfortunately, it is clearly visible on the skin • Many freckles • Irregular dark spots • Etc.

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