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Children of the Moon Xeroderma Pigmentosum XP

Xeroderma Pigmentosum (XP). Origin of name: dry pigmented skin"first described in 1874 by Hebra and Kaposi. XP is a rare hereditary disease caused by an autosomal recessive gene, in which the skin is extremely sensitive to sunlight or ultraviolet light. Affects 1 in 250,000 in North America a

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Children of the Moon Xeroderma Pigmentosum XP

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    1. Children of the Moon Xeroderma Pigmentosum (XP) Presented by Dayleen Coleman Biology 316 7/29/04

    2. Xeroderma Pigmentosum (XP) Origin of name: dry pigmented skin first described in 1874 by Hebra and Kaposi. XP is a rare hereditary disease caused by an autosomal recessive gene, in which the skin is extremely sensitive to sunlight or ultraviolet light. Affects 1 in 250,000 in North America and Europe and 1-40,000 in Japan

    3. Biology of XP DNA Repair Disorder Nucleotide excision repair (NER) Seven different complementation groups (XPA to XPG) XPE-Lesion recognition XPC-binds to DNA-marker XPB & XPD-unwind DNA in damaged region XPF & XPG- makes single strand nicks on each side of lesion for release of region XPA- gene product-replication DNA polymerase-fills the gap

    4. Diagnosis of XP Three major areas of involvement: Skin: acute sun sensitivity, severe sunburn, freckling, xerosis, and poikiloderma. Eye: limited to the anterior (conjunctiva, cornea, and lids) of the eye. Nervous system: acquired microcephaly, diminished or absent deep tendon stretch reflex, progressive hearing loss, and cognitive impairment.

    5. Cancers Related to XP Patients with XP under 20 years of age have greater than 1000-fold increase risk of skin cancers Basal cell carcinoma Squamous cell carcinoma Melanoma The median age of non-melanoma cancer reported in patients w/XP is eight years of age.

    6. Cancers cont. Gliomas of the brain and spinal cord, tumors of the lung, uterus, breast, pancreas, stomach, kidney, and testicles, as well as leukemia. Further research is being conducted on mutant mouse models in determining internal cancers related to exposure to certain carcinogens

    7. Treatment and Prevention Extreme measures must be taken to protect the skin and eyes from UV light. NASA designed UV protective suit (1998) UV absorbing glasses High SPF sunscreens Protein therapy topical lotion

    8. Hereditary Statistics Parents Siblings Other family members Offspring

    9. Additional Information XP Society Inc: http://www.xps.org/index.html Camp Sundown Walk by the light of the Moon

    10. THE END Thank You ?

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