CASE REPORT Extranodal Rosai-Dorfman disease: involvement of eye, nose and trachea GIANCARLO OTTAVIANO 1 , DANIELE DORO 2 , GINO MARIONI 1 , PIERFRANCESCO MIRABELLI 2 , ROSARIO MARCHESE-RAGONA 1 , SOFIA TOGNON 2 , FILIPPO MARINO 3 & ALBERTO STAFFIERI 1 1 Department of Otolaryngology, Head and Neck Surgery, 2 Department of Neuroscience, Eye Unit and 3 Department of Pathology, Padua University, Padua, Italy 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 Á 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. Introduction Sinus histiocytosis with massive lymphadenopathy is an uncommon benign proliferation of haemato- poietic and fibrous tissue. Rosai and Dorfman first described it as a distinct clinico-pathological entity in 1969 [1]. Rosai-Dorfman disease (RDD) occurs in its most typical clinical form as massive, painless, bilateral cervical lymph node enlargement (about 90% of the cases) [2]; other non-cervical peripheral or central lymph nodes can be affected. Lymph node enlarge- ment is typically associated with fever, leukocytosis, high erythrocyte sedimentation rate (ESR), and polyclonal hypergammaglobulinaemia. In approximately 40% of patients with diagnosed RDD at least one site of extranodal involvement is found [3]. The extranodal lesions may represent the predominant or, uncommonly, the exclusive mani- festation of the disease. When the extranodal loca- lization is the exclusive manifestation of the disease, the diagnosis may be difficult. The extranodal sites most frequently involved are the upper respiratory tract, the major salivary glands, the skin, the nasal cavity, the orbit and eyelid, the bone, the testis and rarely the intracranial regions. Foucar and colleagues [3] stated that 75% of the extranodal lesions occur in the head and neck regions (nasal cavity, orbit and eyelid) with unusual ocular globe involvement. To the best of our knowledge we present the first case of RDD with unilateral multiple epibulbar nodules with nasal septum and trachea involvement without cervical lymph node localization. Case report In 1993, a 43-year-old Caucasian male patient was referred to the Department of Ophthalmology of Correspondence: Giancarlo Ottaviano, MD, Department of Otolaryngology, Head and Neck Surgery, Via Giustiniani 2, 35128 Padua, Italy. E-mail: gianottaviano@inwind.it Acta Oto-Laryngologica, 2006; 126: 657 Á 660 (Received 26 September 2005; accepted 27 October 2005) ISSN 0001-6489 print/ISSN 1651-2551 online # 2006 Taylor & Francis DOI: 10.1080/00016480500452582