Extranodal Rosai-Dorfman disease: involvement of eye, nose and trachea

Abstract

Rosai-Dorfman disease (RDD) is a rare non-neoplastic histiocytic proliferative disorder characterized by painless lymphadenopathy. Extranodal lesions frequently occur in the head and neck regions. We report the clinical and histological features of extranodal RDD in a 43-year-old man with a previously unreported combination of multiple gross anterior epibulbar nodules in the right eye, submucosal masses of nasal septum and trachea, and no lymphadenopathy during the 12-year follow-up. The patient underwent ophthalmological, otolaryngological and systemic evaluation; gallium 67 scintigraphy; bronchoscopy; ophthalmic ultrasound; head and neck CT scan; biopsies of epibulbar, nasal and tracheal tissues; and septoplasty. Histological specimens showed lymphocytophagocytosis and positive immunoperoxidase staining for S100 protein in foamy histiocytes; both features were typical for RDD. No response to topical or systemic steroids or to radiation therapy was recorded. Removal of nasal septum masses resolved nasal obstruction. The diagnosis of RDD requires histological and, in challenging cases, immunohistological specimens and is difficult--especially with pure extranodal localizations as in our case. RDD should be suspected in cases of subconjunctival mass and/or submucosal nasal and tracheal swellings not responding to systemic steroids.

Extranodal Rosai-Dorfman Disease Presenting as an Epibulbar Tumor

“…3,13,14 Other sites with biopsyproven involvement were as follows: skin, 9,12 eyelid, 9,12 ethmoid sinus, 12 vocal cord, 8 nasal cavity, 10,11 and trachea. 11 Mean age at onset was 35 years, which is higher than overall SMHL (mean, 19.7 years). There was also a striking male predominance (9:1).…”

“…Zimmerman et al 3 published the first case of an epibulbar tumor as a manifestation of RDD and stated that the presence of lymphadenopathy is not essential for the diagnosis. The review of all published cases 3,[8][9][10][11][12][13][14] showed that, whenever there is an epibulbar tumor as a manifestation of RDD, the absence of lymphadenopathy is characteristic. Only 2 of the 9 reported cases presented with lymphadenopathy.…”

“…Since then, there have been only few scattered case reports. [8][9][10][11][12][13][14] Herein, we report a case of an epibulbar tumor as the only manifestation of RDD. A review of all previously published cases was also performed.…”

Imaging of Head and Neck Lymph Nodes

“…1,64,65 Although these diagnoses are less common, one should be aware of these processes when forming a differential diagnosis of cervical node enlargement.…”

Orbital and Adnexal Rosai-Dorfman Disease

“…Proptosis is the commonest symptom, but blurred vision, diplopia, dry eye, and epiphora may all be seen (Foucar et al, 1979). Other ophthalmological manifestations include epibulbar masses, marginal corneal infiltrates, and uveitis (Nakashima et al, 2006;Ottaviano et al, 2006).…”