title: [Ophtalmologic manifestations of the xeroderma pigmentosum].
abstract: Xéroderma pigmentosum (XP) is a rare genetic disease characterised by defective repair of DNA damage. We report a retrospective study of the ophtalmologic manifestations of 16 patients with xéroderma pigmentosum, the ophtalmologic manifestations were present in 62% of cases. The age of patients was 7 to 22 years. Photophobia were seen in all patients. Multiple tumors were seen with 5 squamous cell carcinoma. Tumor size was 1 to 6 cm. Ocular involvement occurs in up to 80% of cases of XP. Infection, néoplasia, conjonctiva are the most commun finding. Patients with XP can acquire squamous cell carcinoma at an early age.
authors.affiliation: Service de Dermatologie, CHU Sfax, Tunisie.
authors.forename: Madiha
authors.initials: M
authors.lastname: Mseddi
authors.forename: Dorra
authors.initials: D
authors.lastname: Sellami
authors.forename: Y
authors.initials: Y
authors.lastname: Elloumi
authors.forename: Yacine
authors.initials: Y
authors.lastname: Aloulou
authors.forename: Bourane
authors.initials: B
authors.lastname: Kammoun
authors.forename: Hamida
authors.initials: H
authors.lastname: Turki
authors.forename: Jamel
authors.initials: J
authors.lastname: Feki
authors.forename: Abdelmajid
authors.initials: A
authors.lastname: Zahaf
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D014983:Xeroderma Pigmentosum / Q000150:complications*