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Rosai-Dorfman disease is a rare systemic histioproliferative disease characterized clinically by cervical lymphadenopathy and pathologically by lymph node sinuses containing histiocytes with intact phagocytosed lymphocytes (emperipolesis).
We report a novel case of a patient with unilateral corneal anaesthesia and neurotrophic keratitis as presenting features of Rosai-Dorfman disease.
A 16-year-old male presented with a corneal ulcer in the left eye. He had a history of global developmental delay with seizure disorder, making clinical examination challenging. On examination, there was an absence of corneal sensation in the left eye with a small (1.5 mm × 1.5 mm) inferior corneal ulcer. Corneal sensation was normal in the right eye. There was no lagophthalmos. The rest of the anterior segment was unremarkable. He also had a painless left temporal orbital mass that had been gradually increasing in size for the previous few months. There was no proptosis. Extraocular movements were normal. The ulcer was managed with artificial tear drops, antibiotic ointment, and lid taping; and it healed with corneal vascularization (Fig. 1). A magnetic resonance imaging (MRI) of brain and orbits, examination under anaesthesia (EUA), biopsy of the orbital mass, and left tarsorrhaphy were scheduled.
The MRI (Supplementary Figs. 1A and 1B, available online) showed an ill-defined mass in the superior-temporal aspect of the left orbit, involving the left lacrimal gland. It measured 17 mm × 34 mm × 27 mm. It had mild mass effect on the left globe as well as the lateral rectus, superior oblique, and superior rectus muscles. No proptosis was seen. The extraocular muscles and optic nerve were normal. Expansile soft-tissue masses involving the nasal cavity, ethmoids, and right osteomeatal complex were seen.
At EUA, there was left corneal stromal scarring and vascularization. Cycloplegic refraction showed a refractive error of −15.00 D OD and −14.00 D OS. Dilated fundus examination showed myopic changes in both eyes. The mass was firm and nodular on palpation. Enlarged lymph nodes in bilateral anterior and posterior clavicular chains were found.
A small skin incision was used for biopsy. The mass appeared pale pink with a capsule (Supplementary Fig. 2, available online). An incisional biopsy and left tarsorrhaphy were then performed.
Histopathology of the specimen showed an encapsulated mass reminiscent of an obliterated lymph node with no definite residual nodal structure. Sheets of foamy histiocytes separated by fibrous bands were seen. Lymphoid aggregates with follicles were mixed with the histiocytes. Intact lymphocytes and plasma cells were seen within the cytoplasm of histiocytes (emperipolesis) (Supplementary Fig. 3, available online). There was no evidence of malignancy. Lesional histiocytes were positive for S100, CD68, and CD163 by immunohistochemistry (Supplementary Figs. 4A and 4B, available online). Immunostains for CD1a and langerin were negative.
The findings of histopathology and imaging were consistent with Rosai-Dorfman disease. Imaging of the chest and abdomen was done to exclude other sites of involvement, and it was normal. After discussion with the patient's family, it was decided not to start any treatment owing to the patient's general condition and neurological delay. His ocular surface is now stable.
Rosai-Dorfman disease was initially known as “sinus histiocytosis with massive lymphadenopathy.”
but corneal anaesthesia and neurotrophic keratitis as seen in our patient have not been reported. The orbital mass, cervical lymph nodes, and nasal and sinus masses were the more typical manifestations of the disease in our patient. Corneal anaesthesia was likely owing to compression of the branches of the left trigeminal nerve by the mass. This is extremely rare and has been previously reported to occur only in isolated case reports with some other tumours in the region.
Alternatively, another cause for corneal anaesthesia such as herpes simplex or zoster infection cannot be ruled out; however, our patient had no history of skin rash or recurrent eye redness. Rosai-Dorfman disease has been postulated to be associated with other herpesvirus infections (specifically Epstein-Barr virus and human herpesvirus 6), which are not normally associated with neurotrophic keratopathy, but there is a possibility that a coexisting infection led to both corneal anaesthesia and the systemic presentation.
Only half of patients with Rosai-Dorfman disease need some form of treatment. The aims of treatments for ophthalmic manifestations are to control functional (e.g., vision, ocular motility) and cosmetic abnormalities. Management options include surgical excision or debulking for lesions in accessible locations, and systemic corticosteroids, chemotherapy, or radiotherapy in patients with severe symptoms.
Discussion with the patient and family is important to make management decisions. In our patient, the lack of significant treatable functional or cosmetic abnormalities as well as the fact that he was developmentally delayed and that his quality of life may further deteriorate from side effects of aggressive treatments were important in the decision to only observe and monitor.
To conclude, Rosai-Dorfman disease, though extremely rare, must be considered in young individuals with slowly progressive orbital masses, especially with associated lymphadenopathy. Care should be taken to check for sight-threatening manifestations like compressive optic neuropathy or neurotrophic keratitis, as in this case. Also, orbital masses should be considered in the differential diagnosis of corneal anaesthesia.
The authors have no proprietary or commercial interest in any materials discussed in this article.