Purpose

Ocular involvement is exceedingly uncommon, and to date, no conjunctival hibernoma has been reported in humans. We present the first such case in a patient with von Hippel–Lindau (VHL) syndrome.

Case report

A 32-year-old woman with genetically confirmed type 1 VHL disease presented with a long-standing, progressively enlarging, painless subconjunctival mass in her only functional eye. Systemic history included multiple cerebellar hemangioblastomas, bilateral nephrectomy for renal cell carcinoma, and an endolymphatic sac tumor. Ophthalmic examination revealed a firm, elevated, subepithelial nodular lesion on the bulbar conjunctiva of the left eye, partially prolapsing beyond the palpebral fissure. The lesion was non-tender, non-ulcerated, and showed no surface inflammation. The eye had phthisis bulbi and residual retinal hemangioblastoma. Orbital magnetic resonance imaging demonstrated a 1.2 × 0.9 × 0.7 cm homogeneous, well-circumscribed lesion, hyperintense on T2-weighted fat-suppressed images, confined to the conjunctiva without scleral, orbital, or bony involvement. Surgical excision revealed a cream-gray, lobulated mass composed of multivacuolated eosinophilic cells with granular cytoplasm. Immunohistochemistry showed strong S-100 positivity and low Ki-67, consistent with hibernoma. Despite a positive deep margin, the patient declined further surgery; no recurrence was observed at three months.

Conclusion

This is the first documented case of conjunctival hibernoma in humans and the second reported association with VHL. Conjunctival hibernoma should be considered in the differential diagnosis of vascular conjunctival lesions, particularly in patients with VHL.

Search results

A rare case of conjunctival hibernoma in a von Hippel–Lindau (VHL) patient: Possible association?