Rosai-Dorfman Disease within the Head, Neck, and Brain: A Case Series and Review of Imaging Findings and Clinicopathologic Features eEdE-122 Michael Stone MD Mathew Rheinboldt MD Pranav Doshi MD Henry Ford Hospital Detroit, MI

The authors have no disclosures

Objectives Briefly describe the clinical presentation and pathologic features of Rosai-Dorfman disease Illustrate imaging findings of Rosai-Dorfman disease within the head/neck and intracranial compartment using case based examples

Introduction Rosai-Dorfman disease (RDD) is a rare disorder most commonly seen in children and adolescents Most common presentation is painless bilateral cervical lymphadenopathy, typically associated with fever. Extranodal disease in 43% In patients with isolated extranodal disease, 75 % occurs in the head and neck. – Within the head and neck, skin involvement is most common, followed by the paranasal sinuses and nasal cavity, subcutaneous tissue, orbit, eyelid, and bone. Other reported sites include salivary glands, oral cavity, pharynx, and trachea – Isolated intracranial disease is rare

Pathogenesis of Rosai-Dorfman Disease Histologically represents infiltration of histiocytes and lymphoplasmacytic cells – Characteristic histologic finding is emperipolesis, in which histiocytes phagocytize WBCs or erythrocytes While some have speculated an atypical response against an immune insult (viral infections), the pathogenesis of RDD remains unclear.

CASE 1 59-year-old male with headache, vertigo and confusion

NECT demonstrates a hyperdense mass in the right cerebellar hemisphere

MR demonstrates a hemorrhagic enhancing intra- axial mass with surrounding edema. FLAIRDWI T1 T1 GAD

Rosai-Dorfman Disease Intracranial Involvement Isolated intracranial RDD is extremely rare and typically manifests as dural thickening mimicking meningioma. About 50/750 reported cases of RDD have involved the CNS. 90% of these cases have dural involvement – Intracranial involvement about 2X more common than spinal disease 70% of CNS cases have no associated nodal disease

Rosai-Dorfman Disease Brain Involvement 9 prior cases of Intra-axial CNS involvement reported – 7 cases involved the cerebrum – 1 case involved the cerebellum – 1 case involved the thoracic spinal cord

CASE 2 80-year-old female with severe right eye pain and blurry vision

Dural involvement: Enhancing dural thickening along the falx and crista gali. Thicker T2 hypointense enhancing dural based mass seen along the left frontal convexity. T1 GAD T2

Dural involvement: T2 hypointense enhancing dural thickening along the falx and crista gali. Orbital involvement: T2 hypointense and enhancing right intraconal and extraconal masses. Ill defined enhancement and edema centered on the left optic nerve sheath. T1 GAD FS T2 FS T1 GAD FS

Rosai-Dorfman Disease Dural Involvement As noted, CNS involvement most commonly manifests as enhancing T2 hypointense dural thickening, often mimicking meningioma. – Typical locations include the cerebral convexities, parasagittal location, suprasellar region, cavernous sinuses and petroclival regions. – Other differential considerations include granulomatous diseases, Langerhans cell histiocytosis, lymphoproliferative disease and plasma cell granulomas.

Rosai-Dorfman Disease Orbital Involvement Involvement of the orbit, globe or eyelid occurs in 7-10% of patients, most commonly unilaterally. – Most common finding is extraconal soft tissue masses. Other imaging findings may include infiltration of the eyelids, extraocular musculature and orbital fat, involvement of the lacrimal glands, optic nerve sheath, or rarely the globe. – Differential considerations are broad and may include pseudotumor, IgG4 related disease, Wegener’s granulomatosis, sarcoidosis, optic nerve sheath tumor and infection.

CASE 3 62-year-old female with itchy skin nodules

Integumentary involvement: CECT demonstrates ill-defined mass-like soft tissue within the left buccomasseteric subcutaneous tissues with overlying skin thickening.

Integumentary involvement: Ill-defined T2 hyperintense enhancing mass-like tissue within the left buccomasseteric region. T1 T1 GAD T2

Cutaneous and Subcutaneous Involvement Skin is the most common site of extranodal disease within the head and neck. Skin involvement occurs more commonly in patients within or after patients in the 5 th decade.

Treatment Treatment of RDD is not standardized Treatment may include surgery, radiation therapy, chemotherapy and immunosuppression. RDD is typically a chronic relapsing disease.

Conclusion RDD is a rare diagnosis with a wide variety of imaging manifestations in neuroradiology and as such typically requires tissue for diagnosis. The most common scenario encountered in neuroradiology is cervical lymphadenopathy followed by skin involvement. Additional sites of disease include the intracranial compartment, head and neck soft tissues and the spine.

References La barge DV, Salzman KL, Harnsberger HR, et al. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): imaging manifestations in the head and neck. AJR Am J Roentgenol. 2008;191(6):W Woodcock RJ, Mandell JW, Lipper MH. Sinus histiocytosis (Rosai-Dorfman disease) of the suprasellar region: MR imaging findings--a case report. Radiology. 1999;213(3): Wang E, Anzai Y, Paulino A, Wong J. Rosai-Dorfman disease presenting with isolated bilateral orbital masses: report of two cases. AJNR Am J Neuroradiol. 2001;22(7): Raslan OA, Schellingerhout D, Fuller GN, Ketonen LM. Rosai-Dorfman disease in neuroradiology: imaging findings in a series of 10 patients. AJR Am J Roentgenol. 2011;196(2):W Konishi E, Ibayashi N, Yamamoto S, Scheithauer BW. Isolated intracranial Rosai- Dorfman disease (sinus histiocytosis with massive lymphadenopathy). AJNR Am J Neuroradiol. 2003;24(3): Mahzoni P, Zavareh MH, Bagheri M, Hani N, Moqtader B. Intracranial ROSAI- DORFMAN Disease. J Res Med Sci. 2012;17(3):304-7.