• Ocular Pathology/Oncology, Oculoplastics/Orbit

    This retrospective study reports the incidence, treatment and outcomes of ocular and periocular tumors in cases of xeroderma pigmentosum (XP).

    Study design

    Researchers retrospectively assessed 120 patients from a single institution in Hyderabad, India. Patients were diagnosed with XP between 1989 and 2017 and underwent intervention with excisional biopsy, enucleation or orbital exenteration. Occurrence of eyelid or ocular surface tumor, globe salvage, locoregional and systemic metastasis and death were assessed.

    Outcomes

    The mean age at presentation was 19 years. Over a mean follow-up of 61 months, 72% of patients developed ocular surface malignancy and 13% developed eyelid malignancy; 28% of patients had no ocular or adnexal tumors and 18% reported other head and neck malignancies.

    The most common ocular surface and eyelid tumors were invasive squamous cell carcinoma (41%) and basal cell carcinoma (50%). Recurrence occurred in 44% of ocular surface tumor cases and 31% of eyelid tumors. Locoregional and systemic metastasis were rare (2% or less). Overall, globe salvage was achieved in 99% of patients.

    Limitations

    This is a large study but the retrospective design is a weakness. Xeroderma pigmentosum is a heterogeneous condition that not only depends on the individual gene involved but also the specific mutation within the gene. This may cause variability between individuals.

    Clinical significance

    This is a valuable study highlighting the importance of regular and long-term follow up of patients with XP. A multidisciplinary approach is often needed as these patients may have both eyelid and ocular surface disease.