Xeroderma pigmentosum
Kalıtsal - AR
Deride DNA onarım kusuru
Kuru-pigmentsiz deri (albinizm)
Deride güneş ışınlarına duyarlılık (güneş yanıkları, bebeklerde çil/lentigo oluşumu)
Gözde güneş ışınlarına duyarlılık (fotofobi, keratit, kapak patolojileri, kapak derisi tümörleri)
Deri atrofisi
Aktinik keratoz (10 yaş öncesinde başlar)
Deri kanserleri: skuamöz epitel karsinomları, malign melanoma
Dudaklarda skuamöz hücreli karsinom
Ağız mukozası karsinomları riski
Progressif mikrosefali
Beyinde nöron kaybı
Koreoatetoz
Zeka geriliği
Sanctis-Cacchione sendromu: Ağır nörolojik bulgular içeren fenotip (koreoatetoz, ataksi, refleksler yetersiz, spastik yapı, sağırlık)
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Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Archives of Dermatology, 123(2):241-250, 1987
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Satokata I, Tanaka K, Miura N, et al. Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutation Research, 273: 193-202, 1992
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Kraemer KH, Lee MM, Andrews AD, Lambert WC. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Archives of Dermatology, 130(8):1018-1021, 1994
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Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nature Reviews Cancer, 5(7):564-573, 2005
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Hengge UR, Emmert S. Clinical features of xeroderma pigmentosum. Advances in Experimental Medicine and Biology, 637:10-18, 2008
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Kleijer WJ, Laugel V, Berneburg M, et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amsterdam), 7(5):744-750, 2008
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Bradford PT, Goldstein AM, Tamura D, et al. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. Journal of Medical Genetics, 48:168–176, 2011
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Brooks BP, Thompson AH, Bishop RJ, et al. Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology, 120:1324–1336, 2013