Massive Corneal Tumor In A Patient With Xeroderma Pigmentosum

To describe the clinical presentation, diagnostic approach and management of a massive corneal tumor in a patient with xeroderma pigmentosum (XP), a rare autosomal recessive disorder affecting DNA repair mechanisms. XP predisposes patients to malignancies in sun-exposed tissues, including the ocular surface. This case highlights the challenges in ophthalmological care and surgical decision-making in this rare genetic disorder and the role of penetrating keratoplasty (PKP) in visual rehabilitation. We also discuss the long-term prognosis and the limitations of surgical intervention in managing disease progression.

Cornea Service, Barraquer Ophtalmology Center

A 20-year-old male with XP presented with progressive bilateral vision loss and growing vascularized corneal mass in the right eye (RE). Examination revealed extensive actinic damage, hyperpigmented macules and bilateral lower eyelid ectropion. The RE had a lobulated, highly vascularized, gelatinous mass covering the cornea, with complete conjunctivalization. The left eye (LE) exhibited conjunctival hyperemia with inferior pannus. Best-corrected visual acuity (BCVA) was light perception (LP) in the RE and 0.7 in the LE. A biopsy of the tumor’s ruled out malignancy, revealing benign scar tissue. Subsequently, complete surgical excision was performed, followed by penetrating keratoplasty (PKP) in the RE.

Histopathological analysis confirmed that the corneal mass was composed of benign fibrovascular tissue without dysplasia or malignancy. Following complete excision and PKP, initial BCVA in the RE improved to 0.3. The corneal graft remained relatively clear initially, but progressive opacification developed after the first year, likely due to recurrent fibrovascular ingrowth. The LE remained stable with conservative management. Despite strict sun protection and monitoring, the disease progressed, culminating in an internal malignancy and the patient’s eventual death. This case underscores the progressive and multisystemic nature of XP and the challenges in achieving long-term visual rehabilitation despite aggressive intervention.

Ocular manifestations in XP are common, primarily affecting the anterior segment with a high risk of neoplastic transformation. While PKP can temporarily restore corneal clarity, long-term success is limited due to progressive DNA repair defects, chronic inflammation and recurrent fibrovascular ingrowth. Early and accurate lesion characterization is crucial, as not all XP-related ocular masses are malignant. Although PKP may provide short-term visual improvement, long-term graft survival remains uncertain. Advances in keratoprosthesis and gene therapy may improve future outcomes, but until then, strict UV protection, multidisciplinary care and individualized surgical strategies remain essential for optimizing prognosis and quality of life.