Article

[Ophtalmologic manifestations of the xeroderma pigmentosum].

Service de Dermatologie, CHU Sfax, Tunisie.
La Tunisie médicale 10/2006; 84(9):542-4. pp.542-4
Source: PubMed

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.

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Keywords

5 squamous cell carcinoma
 
commun
 
DNA damage
 
Multiple tumors
 
Ocular involvement
 
ophtalmologic manifestations
 
rare genetic disease characterised
 
retrospective study
 
squamous cell carcinoma
 
XP
 
Xéroderma pigmentosum