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  • Title: Ocular surface squamous neoplasia in xeroderma pigmentosum: clinical spectrum and outcome.
    Author: Gupta N, Sachdev R, Tandon R.
    Journal: Graefes Arch Clin Exp Ophthalmol; 2011 Aug; 249(8):1217-21. PubMed ID: 21484462.
    Abstract:
    BACKGROUND: To study the clinical spectrum and therapeutic outcome of ocular surface squamous neoplasia (OSSN) in patients with xeroderma pigmentosa (XP). METHODS: The authors performed a retrospective review of records of patients with xeroderma pigmentosa referred to Cornea Services for management of OSSN. Presenting symptoms, clinical features, tumour morphology and location, treatment modalities, recurrence rates and visual outcome were noted. RESULTS: Seven patients of XP (six males; one female) with bilateral OSSN were included in the study. All patients were less than 15 years of age at presentation, with 13 of 14 lesions of OSSN (93%) occurring at the limbus. Associated ocular features were limbal stem cell deficiency in nine eyes (64.3%), dry eye in all 14 eyes (100%), conjunctival melanosis in seven eyes (50%), pseudopterygium in two eyes (14.3%), anterior symblepharon in three eyes (21.4%) and conjunctival inflammatory granuloma in one eye (7.1%). Unaided visual acuity in the 14 eyes ranged from 6/6 to 6/36 at presentation. Six of the 14 eyes (42.9%) had histopathological features of invasive squamous cell carcinoma, and eight eyes (57.1%) demonstrated features consistent with conjunctival intraepithelial neoplasia. Recurrence was seen in nine of 14 eyes (64.3%). CONCLUSIONS: OSSN occurs predominantly in the elderly, but in patients of XP it tends to occur at a younger age (6-22 years). The disease appeared to be more aggressive (recurrence rate = 64.3%) than usual. Awareness and prompt management with close follow up is warranted in these patients.
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