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)

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
Satokata I, Tanaka K, Miura N, et al. Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutation Research, 273: 193-202, 1992
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
Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nature Reviews Cancer, 5(7):564-573, 2005
Hengge UR, Emmert S. Clinical features of xeroderma pigmentosum. Advances in Experimental Medicine and Biology, 637:10-18, 2008
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
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
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