X

 

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)

Bkz Cockayne sendromu

 

  • 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