Sinus Histiocytosis with Massive Lymphadenopathy and Unusual Multi-organ Spread: A Case of Rosai–Dorfman Disease

CASE PRESENTATION

A 64-year-old female presented with gradually progressive wellings in the neck region since 2021. She had swelling in the right orbital for 1 month. The patient complained of a progressively increasing headache for 1 month. On clinical examination, she had multiple discrete swellings on both sides of the neck. Magnetic resonance imaging (MRI) head revealed multiple homogenous soft tissue lesions in the cerebellar hemispheres, causing effacement of the 4th ventricle. Similar lesions were noted in the right cerebellopontine angle and infraorbital space. Fine needle aspiration cytology of the right submandibular region suggested inflammatory pathology. Patient underwent left cervical lymph node biopsy. Histopathology was suggestive of Rosai–Dorfmann disease. On immunohistochemistry, histiocytes showed positivity for CD68 and S100 and were negative for CD1a. Laboratory investigations were unremarkable apart for anemia (haemoglobin – 9.2 g/dL). 18F- fludeoxyglucose positron emission tomography/computed tomography [Fig. 1a-f] demonstrated metabolically active lesions involving the bilateral orbits, lymph nodes, and subcutaneous (breast, arm, and lumbar region). Apart from that, the patient had lesions in the nasopharynx, pancreas, renal cortices, bones (frontal and right acetabulum), and paravertebral muscles [Fig. 2a-h].

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Fig 1: (a) The maximum intensity projection image and (b) whole-body fused coronal positron emission tomography/computed tomography (PET/CT) image demonstrate metabolically active lesions in the cervical, mediastinal, and right arm regions. (c) Fused axial F-18 flurodeoxyglucose (FDG) PET/CT and (d) axial T1 contrast-enhanced magnetic resonance imaging brain images show asymmetric decreased FDG uptake in the right cerebellum with multiple hyperintense lesions in the bilateral cerebellar hemisphere (black arrows in d). An asymmetrical increase in uptake on the right side of the nasopharynx and multiple soft tissue nodular lesions in the superficial lobe of the right parotid gland was noted. (e) Fused axial PET/CT and (f) corresponding axial CT (white arrows in e and f) images show tissue mass lesions in bilateral orbits.

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Fig 2: (a) Fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (CT) and (b) Axial CT images (white arrows) show metabolically active multiple enhancing bilateral cervical lymph nodes (arrows), (c and d) axillary and mediastinal lymph nodes (arrows), metabolically active soft-tissue subcutaneous nodular lesions in both arms (white arrow in d). (e and f): A FDG avid hypodense mass, (white arrow) is noted in the tail of pancreas. (g and h): Focal areas, (white arrow in g) of increased FDG uptake in the bilateral renal cortex with no significant CT changes

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The patient was started on dexamethasone and methotrexate.

Rosai–Dorfman disease (RDD), also known as sinus histiocytosis, is a rare non-Langerhans cell histiocytosis characterised by the accumulation of distinctive histiocytes within lymph nodes or extranodal tissues.^[1]

RDD is defined by the presence of large S100-positive, CD68-positive, and CD1a-negative histiocytes exhibiting emperipolesis (engulfment of intact lymphocytes or other blood cells).^[2]

It typically presents with massive, painless, bilateral cervical lymphadenopathy, often affecting children and young adults, but extranodal involvement (such as skin, soft tissues, or other organs) is common and sometimes predominant.^[3]

Laboratory evaluation may reveal normocytic and normochromic anemia, leukocytosis, thrombocytopenia, eosinophilia, hypergammaglobulinemia, and an elevated ESR. Intermittent fever, night sweats, weight loss, and asthenia may be present.^[2]

The most common presenting feature was subcutaneous nodules, with lymph node involvement. Skeletal and head and neck involvement are less common (11%–25%).^[3]

Multi-organ involvement is rare. Nasal cavity and paranasal sinuses (16%); eye, orbit, and ocular adnexa (11%); bone (11%); salivary gland (7%); central nervous system (7%) are less commonly involved. While diseases involving the oral cavity (4%), kidney and genitourinary tract (3%), respiratory tract (3%), liver (1%), tonsils (1%), breast (<1%), and pancreas are rare.^[4-6]

Patients with multifocal and extranodal RDD seem to have an unfavourable prognosis. Intensive systemic chemotherapy and targeted therapies may be justified.^[7]