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Sir,

We report an unusual case of epiphora caused by mechanical obstruction of the puncta by isolated neurofibromas.

Case report

A 45-year-old lady, originally from Surinam, presented with a 3 year history of epiphora and irritation of both eyes. There was no other relevant past medical or family history. Visual acuity was normal. External examination revealed ‘hypertrophy’ of the upper and lower puncta (Figure 1) of both eyes. Peripheral vascularization of the cornea and hyperaemia of the conjunctiva were also noted. Excision biopsy of the flesh-coloured punctal lesions was performed. Histology revealed that the lesions were neurofibromas. There were no other ocular features of neurofibromatosis.

Figure 1
figure 1

Hypertrophy of the upper and lower puncta of both eyes.

Full size image

A thorough systemic examination including a neurology review with MRI revealed no other stigmata of neurofibromatosis and there was no family history of neurofibromatosis. An outpatient review 2 months later revealed resolution of her symptoms of epiphora.

Comment

Neurofibromas are benign peripheral nerve sheath tumours characterized by a combined proliferation of Schwann cells, endoneural fibroblasts, and axons. They are usually associated with systemic neurofibromatosis, but can occur as isolated lesions.1

Three types of neurofibroma occur in the orbit: solitary, diffuse, or plexiform (the latter is considered pathognomonic of neurofibromatosis). Ocular involvement may include the eyebrow, eyelids, conjunctiva, iris, choroid, optic nerve, and orbit.

Three features of this case are unusual. Firstly, isolated conjunctival neurofibromas are rare and have not been previously described at the puncta causing epiphora. Secondly, neurofibromas are usually associated with systemic neurofibromatosis. A thorough systemic examination in this patient showed no signs of neurofibromatosis. Thirdly, patients with these lesions often present at an earlier age than our patient in the second or third decade of life.

Kalina et al2 reviewed the literature for isolated conjunctival neurofibromas and documented a detailed description of 13 cases in the literature including four from their own institution. Of the 13 cases, 10 had systemic neurofibromatosis. The lesions were located at the limbus in over half of the cases, and the remainder were located on the upper tarsal conjunctiva and on the temporal bulbar conjunctiva. At this location, they can be mistaken for a dermoid. None were documented at the puncta. Simple excision was curative in these cases, similar to ours, as the growth of these lesions is characteristically uniformly slow.