| Literature DB >> 17263199 |
Madiha Mseddi1, Dorra Sellami, Y Elloumi, Yacine Aloulou, Bourane Kammoun, Hamida Turki, Jamel Feki, Abdelmajid Zahaf.
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.Entities:
Mesh:
Year: 2006 PMID: 17263199
Source DB: PubMed Journal: Tunis Med ISSN: 0041-4131