Xeroderma Pigmentosum

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Xeroderma Pigmentosum

• By Erin Smith
• 2/26/09

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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_pigmentosu
  m)

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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
  

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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

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Treatment of XP

• Cryotherapy
• The removal of heat from the body
• Fluorouracil
• Pyrimidine analog used to treat cancer
• Reduced exposure to suns UV rays
• http//en.wikipedia.org/wiki/Fluorouracil
• http//en.wikipedia.org/wiki/Xeroderma_pigmentosum
  
• http//en.wikipedia.org/wiki/Cryotherapy

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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
  

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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

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Tests/Diagnosis

• Eye exams may show
• Clouding of the cornea
• Keratitis
• Lid tumors
• Blepharitis
• http//www.nlm.nih.gov/medlineplus/ency/article/00
  1467.htm

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Tests/Diagnosis

• Before birth
• Amniocentesis
• Chorionic villous sampling
• Culture of amniotic cells
• http//www.nlm.nih.gov/medlineplus/ency/article/00
  1467.htm

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Tests/Diagnosis

• After Birth
• Culture of skin fibroblasts
• Skin biopsy
• http//www.nlm.nih.gov/medlineplus/ency/article/00
  1467.htm

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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.