[Ocular malignancies of xeroderma pigmentosum: clinical and therapeutic features].

BACKGROUND

Our aim was to determine the epidemiological, clinical and histopathological features as well as the most suitable therapeutic management of malignant ocular tumours in xeroderma pigmentosum based on a retrospective study of 32 patients.

PATIENTS AND

METHODS

Our study was conducted in the ophthalmology unit of the Charles-Nicolle hospital between January 2001 and January 2004. A complete bilateral ophthalmologic investigation was performed for all patients and the severity of photophobia was scored on a four-point scale.

RESULTS

Thirty-two xeroderma pigmentosum patients were examined during this period. Photophobia was found in 66% of cases and 19 of 32 patients (59%) were presenting ocular and periocular malignancies. The mean age of patients was 19 years (four to 40 years). Thirty-three tumours were diagnosed in these 19 patients. Blindness was noted in 3/26 (12%) eyes in patients without malignant tumour and in 10/38 (26%) eyes in patients with malignant tumour.

CONCLUSION

Various types of malignant ocular-cutaneous tumours relating to sunlight developed in xeroderma pigmentosum patients. These disorders are more prevalent in severe and moderate forms of xeroderma pigmentosum. Lesions occur almost exclusively in the eyelids, conjunctiva, limbus and/or cornea. The rapid regression of these tumours, particularly in the cornea and limbus, may cause blindness, emphasising the importance of early management and regular monitoring of patients in order to allow early diagnosis of this condition, thereby ensuring the least mutilant treatment possible.