[Ophtalmologic manifestations of the xeroderma pigmentosum].
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.
Mseddi
Madiha
M
Service de Dermatologie, CHU Sfax, Tunisie.
Sellami
Dorra
D
Elloumi
Y
Y
Aloulou
Yacine
Y
Kammoun
Bourane
B
Turki
Hamida
H
Feki
Jamel
J
Zahaf
Abdelmajid
A
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*