Isolated Intracranial Rosai-Dorfman Disease

Dorfman disease (RDD) is a benign histiocytic proliferative disorder of unknown etiology. This rare condition commonly causes massive cervical lymphadenopathy. Intracranial RDD without any nodal involvement is extremely rare.  A young Bangladeshi male complained of bilateral complete blindness with left sided deafness for about three years. There was no lymphadenopathy. MRI and CT scan of brain suggested an inflammatory/neoplastic (?meningioma) lesion located at left parasellar region which extended frontally to encircle both optic nerves and also to left prepontine area. Histopathologically the lesion was diagnosed as RDD. The patient was treated with steroid and significant clinical improvement observed.  The prognosis of intracranial RDD is not poor. It can be treated with surgery with or without corticosteroids, chemotherapy, and so forth. But as the condition is extremely rare and often misdiagnosed, the clinician, radiologist, and histopathologist should have a suspicion in their mind about the possibility of RDD.

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title: Intracranial Rosai-Dorfman disease with relapsing spinal lesions.
abstract: et al: Treatment of children with B-cell non-Hodgkin's lymphoma in developing countries: The experience of a single center in Brazil. et al: Laboratory strategies for efficient handling of paraffin-embedded tissues for molecular detection of clonality in non-Hodgkin lymphomas. et al: VH gene sequences from primary central nervous system lymphomas indicate derivation from highly mutated germinal center B cell with ongoing mutational activity. 6. Camilleri-Broë t S, Martin A, Moreau A, et al: Primary central nervous system lymphomas in 72 immunocompetent patients: Pathological findings and clinical correlations: Groupe Ouest Est d'E ´ tude des Leucé mies et Autres Mala-dies du Sang (GOELAMS).  Schlü ter D, et al: Primary central nervous system lymphomas are derived from germinal-center B cells and show a preferential usage of the V4-34 gene segment. et al: AIDS primary central nervous system lymphoma: Molecular analysis of the expressed VH genes and possible implications for lymphomagenesis. A, et al: The molecular and phenotypic profile of primary central nervous system lymphoma identifies distinct categories of the disease and is consistent with histogenetic derivation from germinal center-related B cells. 11. Camilleri-Broë t S, Criniere E, Broë t P, et al: A uniform activated B-cell like immunophenotype might explain the poor prognosis of primary central nervous system lymphomas: Analysis of 83 cases. A 50-year-old man developed a left lateral occipital tingling sensation , left-sided intermittent diplopia, and numbness over the left lip and cheek. Magnetic resonance imaging (MRI) demonstrated multiple extra-axial dural-based lesions (Fig 1A-1D, yellow arrows). The largest lesions were located at the left frontal convexity and both temporal regions and exhibited homogenous isointense signal intensity to gray matter on T1-and T2-weighted images, subtle hyperin-tensity on the fluid-attenuated inversion recovery images, and avid contrast uptake. Diffusion-weighted images, apparent diffusion coefficient values, and the exponential diffusion coefficient were all isoin-tense to gray matter. Perilesional brain edema (Fig 1B, blue asterisk) and mass effect were also evident. An enhancing dural tail was present (Fig 1D, blue arrow), with no evidence of hyperostosis, calcification, or hemorrhage. Bilateral petroclival lesions that exhibited the same signal behavior were also present, with extension into the prepontine cistern and compression of the corresponding cavernous sinuses and trigeminal nerves at the Meckel's caves (Figs 1A-1C). The smaller lesions appeared as a plaque-like enhancing focal meningeal thickening with no mass effect, edema, or hyperostosis. They were not dis-cernable …

title: Rosai-Dorfman Disease Isolated to the Central Nervous System: A Report of 11 Cases
abstract: Sinus histocytosis with massive lymphadenopathy, also known as Rosai-Dorfman Disease (RDD), is an idiopathic histiocytic proliferation affecting lymph nodes. Although extranodal involvement has been reported in diverse sites, central nervous system (CNS) manifestation, particularly in the absence of nodal disease is uncommon. We report 11 cases of RDD primary to the CNS without evidence of other sites of involvement. The cases included 7 males and 4 females ranging in age from 22 to 63 years (mean: 41 y). The patients presented with headaches, seizures, numbness, or paraplegia. Eight cases involved the cranial cavity and three cases, the spinal canal. Lesions were most often extra-axial and dura based. Only one presented in the CNS parenchyma. Histologically, the lesions consisted of variable numbers of pale-staining histocytes with emperipolesis often overshadowed by extensive lymphoplasmacytic infiltrates and fibrosis in the background. Special stains for organisms were negative. By immunohistochemical analysis, the characteristic histiocytes were positive for S100 protein and CD68 and negative for CD1a. Treatment consisted of surgical biopsy or excision. Follow-up, available for 10 cases with intervals ranging from 5 days to 42 months (mean: 15 mo), disclosed one patient dying of operative complications 5 days after biopsy and nine patients with no evidence of disease progression RDD should be considered in the differential diagnosis of inflammatory lesions of the CNS. Our study suggests that this entity may have been misdiagnosed in the past as plasma cell granuloma or inflammatory pseudotumor.

title: Isolated intracranial Rosai Dorfman disease.
abstract: Rosai Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a benign histiocytic proliferative disorder mainly affecting the lymph nodes. Although several cases of extra-nodal involvement have been reported previously, central nervous system involvement, particularly in the absence of nodal disease is extremely rare. We report a case of isolated intracranial RDD occurring in a relatively elder patient, which was shown by histological examination to have a dura-based involvement.

title: Isolated intracranial Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy).
abstract: Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) rarely affects the intracranial region without involvement of other sites. We report the case of a 68-year-old woman with isolated Rosai-Dorfman disease of the frontal dura. She presented with a new onset seizure. Initial MR imaging showed subtle mild change in the left frontal region. During the ensuing 8 months, a dural mass made its symptomatic and definite MR imaging appearance in the same region. No extracranial lesion was present.

title: Isolated intracranial Rosai-Dorfman disease mimicking meningioma in a child: a case report and review of the literature.
abstract: We report the first case of extensive involvement of isolated intracranial Rosai-Dorfman's disease (RDD) in a child. Our case is unique because it presents with involvement of the middle cranial fossa, cavernous sinus, pituitary gland, orbit, ethmoid and sphenoid sinuses. Previous cases of intracranial RDD in children have reported separate involvement of cavernous sinus, suprasellar region, and frontal and petroclival regions. Involvement of the pituitary gland has so far not been reported. A 14-year-old male presented with a medical history of loss of vision, raised erythrocyte sedimentation rate (ESR), and abnormal prolactin and cortisol levels. Radiologically the diagnosis was meningioma. The histopathological diagnosis was RDD with emperipolesis and S-100 positivity. RDD is a histiocytic proliferation of unknown aetiology, which commonly affects lymph nodes. Uncommonly it involves the extranodal sites and rarely the central nervous system (CNS). 80 cases of RDD involving CNS have been reported in the literature, and only 5 were in children. Although the definitive diagnosis of RDD disease is based on the histopathology report, it should be included in the differentials of a lesion mimicking meningioma especially in children.

title: Multiple involvement of the central nervous system in Rosai-Dorfman disease.
abstract: Dorfman disease is a rare, benign, idiopathic histio-proliferative disorder. Only 5% of cases involve the central nervous system. We describe a 10-year-old girl with pain in her lower limbs and back. Spinal magnetic resonance imaging revealed an intradural extramedullary lesion at T9-T10. We decided on surgical treatment. An anatomic/pathologic examination revealed histiocytic-like cells and extensive fibrosis. Immunohistochemistry revealed positivity for CD68 protein and negativity for CD1a protein. Craniospinal magnetic resonance imaging demonstrated an extra-axial lesion in the right frontal region, a small nodule in the left middle cerebellar peduncle, and another small lesion in the right ventral pons. We performed a complete removal of the frontal lesion. The histologic examination produced results compatible with Rosai-Dorfman disease. Most lesions in intracranial Rosai-Dorfman disease mimic meningioma. The definitive diagnosis relies on pathologic and immunohistochemical characteristics. Surgical removal is generally regarded as the treatment of choice. Disease progression after surgical resection is uncommon. Surgical treatment is not recommended until clear disease progression is detected, or focal disease causes neurologic compression. This disease must be included in the differential diagnosis of lesions that mimic meningioma.

title: Solitary Intracranial Rosai-Dorfman Disease: Case Report and Literature Review
abstract: Dorfman disease is a well-established autoimmune histioproliferative disorder, and solitary central nervous system involvement is rare. A 35-year-old man presented with headache and transient blurred vision of 4 months' duration and weakness of the left extremities for 1 month. He had left temporal hemianopsia, a right nasal visual field defect of the upper medial quadrant and decreased muscle strength of the left extremities. Magnetic resonance imaging (MRI) showed a contrast-enhancing tentorium-based lesion in the right trigone, intruding into the right lateral ventricle. The lesion was totally resected. Dorfman disease was confirmed pathologically by an inflammatory infiltrate in the absence of an infectious agent, emperipolesis and positive S100 staining. From a review of the literature on Rosai-Dorfman disease in the central nervous system it is concluded that follow-up MRI should be performed in order to detect possible recurrence and that this rare entity should be considered in the differential diagnosis of intracranial lesions.

title: Rosai dorfman disease of the orbit
abstract: ObjectiveTo report the clinico-histopathologic features, management and outcome of Rosai-Dorfman disease of the orbit.DesignNon-comparative case series.ResultsRosai-Dorfman disease of the orbit constituted 0.09% of all ocular specimens received at our Institute, presenting with a firm rubbery mass causing proptosis; bilateral in 4 (57%) cases. The median age at presentation was 13 years (range 5–65); median duration of symptoms was 6 (range 3–15) years. Lymphadenopathy was noted in 4 (57%); extranodal involvement in 3 (43%). After biopsy, 3 cases were treated with systemic corticosteroids, 2 cases developed local recurrence that responded to systemic corticosteroid therapy. Polymorphous population of lymphocytes, plasma cells, and characteristic S-100-positive histiocytes showing emperipolesis were pathognomonic histologic features.ConclusionRosai-Dorfman disease of the orbit, although rare, should be considered in young individuals with chronic proptosis with rubbery masses. Excision and corticosteroid therapy provide a favorable outcome.

title: Regression of intracranial rosai-dorfman disease following corticosteroid therapy. Case report.
abstract: Dorfman disease (RDD) is an idiopathic histioproliferative disorder usually presenting with massive, painless lymphadenopathy. Extranodal involvement has been reported including at least 50 cases affecting the central nervous system (CNS). The treatment of CNS RDD as reported in the literature has primarily involved a surgical technique. The authors report on the case of a 53-year-old man presenting with multiple skull base lesions mimicking meningiomas. The patient suffered visual deterioration and underwent a right orbitopterional craniotomy as well as optic nerve decompression. Histopathological analysis revealed histiocytic cells and emperipolesis consistent with RDD. Following surgery, corticosteroid agents were administered, leading to marked resolution of both the remaining surgically untreated lesions and the balance of the patient's symptoms. This report represents the first case of the resolution of intracranial RDD following corticosteroid therapy. Corticosteroid agents should be considered an effective option in the treatment of CNS RDD.

title: Sinus Histiocytosis With Massive Lymphadenopathy Involving the Orbit: Reversal of Compressive Optic Neuropathy After Chemotherapy
abstract: A 38-year-old woman from Antigua had compressive optic neuropathy of the right eye caused by orbital involvement with sinus histiocytosis. There was also nasal sinus involvement and massive cervical lymphadenopathy resulting in radiographic compression of the airway and carotid sheath. Because of the compressive optic neuropathy and threat to the airway and carotid perfusion, the patient underwent a 6-month chemotherapeutic regimen of cyclophosphamide, vincristine, and prednisone. After chemotherapy, the visual dysfunction resolved in correlation with diminution of the orbital mass, and marked regression of the cervical lymphadenopathy. This case demonstrates the potential efficacy of chemotherapy in the treatment of compressive optic neuropathy in cases of orbital sinus histiocytosis with massive lymphadenopathy.

title: Rosai–Dorfman Disease. Extranodal Sinus Histiocytosis in Three Co-existing Sites. A Case Report
abstract: A 73-year-old woman presented with mild anterior uveitis, ipsilateral optic neuropathy, and ipsilateral skin nodules. A compressive mass at the level of the orbital apex and sphenoid wing was found on cranial magnetic resonance imaging. Biopsy of the skin nodules revealed histopathologic evidence of sinus histiocytosis with massive lymphadenopathy, or Rosai–Dorfman disease (RDD). Systemic investigations failed to show any massive lymphadenopathy, making this a case of extranodal RDD. This is a salient case in that it proposes three simultaneous and separate sites of involvement by extranodal RDD. It also exemplifies that RDD should be a suspect diagnosis even in the absence of lymphadenopathy.

title: Subconjunctival Masses Associated With Central Nervous System Rosai–Dorfman Disease
abstract: To describe a case of subconjunctival masses with multiple intracranial masses diagnosed as Rosai-Dorfman disease by biopsy.  Case report.  A 25-year-old white man presented with bilateral subconjunctival masses, left optic nerve pallor, and posterior segment changes suggestive of regressed choroidal disease. Systemic evaluation was instituted including blood testing, neuroimaging, brain biopsy, and biopsy of the left subconjunctival mass. Pathologic analysis of the brain and subconjunctival mass biopsies revealed Rosai-Dorfman disease.  The authors present a case of extensive extranodal involvement of Rosai-Dorfman of the eye and the central nervous system.

title: Sinus histiocytosis with massive lymphadenopathy--isolated suprasellar involvement.
abstract: An unusual case of an isolated histioproliferative lesion arising from the suprasellar region is described. The presence of lymphophagocytosis suggested that this represented an extranodal intracranial form of sinus histiocytosis with massive lymphadenopathy.

title: Rosai Dorfman disease: Case with extensive dural involvement and cerebrospinal fluid pleocytosis
abstract: We report a young adult man who presented with chronic raised intracranial tension features and unusually progressive bilateral visual and hearing impairment of 18 months duration. MR imaging showed extensive dural involvement and contiguous orbital and spinal disease. Cerebrospinal fluid demonstrated persistent high lymphocytic pleocytosis. Dural biopsy obtained from posterior cervical approach with C1 arch excision and meningeal biopsy revealed features of classical of Rosai-Dorfman disease. Histiocytes were strongly positive for CD-68 and S-100 proteins. The illness relentlessly progressed with patient developing total deafness and near total blindness at last follow-up.

title: Rosai-Dorfman disease associated with neurosensorial hearing loss in two siblings.
abstract: Dorfman disease (RDD) is an uncommon pathologic condition of unknown ethiology with an idiopathic proliferation of the hystiocytes. It is generally presented with massive bilateral hypertrophy of the cervical lymph nodes. But other lymph nodes may also be involved. Approximately, 30% of these patients have extra nodal mass or lesion with different signs or symptoms depending on localization. We present two male siblings with Rosai-Dorfman disease who have classical cervical lymphadenopathy associated with progressive neurosensorial hearing loss and dural-based intracranial lesions.

title: Otolaryngologic manifestations of Rosai-Dorfman Disease.
abstract: To describe an unusual head and neck occurrence of Rosai-Dorfman Disease (RDD) and to review the otolaryngologic manifestations of this rare entity.



A case presentation with review of the literature describing Rosai-Dorfman Disease and its head and neck involvement.



A tertiary care, urban children's hospital.



This is the first description, to the best of our knowledge, of RDD [Sinus Histiocytosis with Massive Lymphadenopathy (SHML)] involving bilateral external auditory canals and middle ear in a 12 year old patient previously diagnosed with 'asthma' and hearing loss. This patient also had extensive involvement of the tracheobronchial tree. Representative clinical, radiographic and histological findings are presented. Its etiology, diagnosis and management are also reviewed.



This is the first reported case of middle ear and external auditory canal involvement of RDD in a patient with hearing loss and associated tracheobronchial lesions. RDD, although rare, may be considered in the differential diagnosis of unusual histiocytic lesions of the external auditory canal, especially with findings of similar or comparable lesions involving the respiratory tract. Confirmation is with identification of emperipolesis and appropriate immunohistochemical staining (S-100 positive, CD-68 positive and CD-1a negative). Intervention is recommended in cases where there is increased risk of mortality, as in severe obstruction of the tracheobronchial tree. Otherwise, since these lesions are self-limiting, the patients can be observed closely.