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Xeroderma pigmentosum

Xeroderma pigmentosum. Kristen Sena Calvin Frauenfelder. Genotypes. Since XP is recessive, either parent could display the trait or have the unexpressed gene. Both of the parents however have to have the recessive trait to have a child with the disease.

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Xeroderma pigmentosum

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  1. Xeroderma pigmentosum Kristen Sena Calvin Frauenfelder

  2. Genotypes Since XP is recessive, either parent could display the trait or have the unexpressed gene. Both of the parents however have to have the recessive trait to have a child with the disease. The genotypes could be Rr X Rr or Rr X rr or rr X rr

  3. The Odds • If one of the parents has the disease and the other is a recessive carrier then the odds of a child getting the disease is 50% • If neither parent displays the gene but carries it recessively then the odds of having a child that has the disease is 25% • If both parents have the disease the odds of them having a child with the disease is 100%

  4. Life Expectancy and Treatment • Life Expectancy: Less than 40% of patients survive beyond the age of 20. Individuals who have a milder case of the disease can survive past middle age • Treatment: reduce exposure to the sun The number of keratoses can be reduced with Isotretinoin.Existing keratoses can be treated using cryxotherapy or fluorouracil

  5. New Treatment • Gene therapy for the DNA repair disease- the construction of a new retroviral container containing one of the DNA repair genes known as ERCC2. This vector will be used to modify keratinocytes to produce repaired skin for graft at the worst areas. This study represents the first step toward long-term skin cancer therapy for XP patients.

  6. How do People get it? XP is a genetic disease that is inherited from the parents. Because XP is recessive both parents must either be heterozygous, homozygous recessive, or a combination of the two.

  7. How Likely are you to Have it? It is estimated that XP infects 1 in 250,000 people world wide. About 40% of all diagnosed cases are in Japan

  8. How XP is Diagnosed XP is diagnosed by a a visual examination of the patients skin and eyes, and a full physical. Because it is hereditary a doctor will also check for a family history of XP

  9. Physical Symptoms An extremely severe sun burn after a short sun exposure (Usually after a child’s first sun exposure). Thick skin. A child may develop freckles at an early age. Pre-mature aging of skin. Oozing raw skin surface. Skin cancers.

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