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Cystoid macular oedema associated with Rosai-Dorfman disease: a case report.

ABSTRACT: The aim of this study is to report a case of cystoid macular oedema (CME) associated with Rosai-Dorfman Disease (RDD).A 52-year-old male initially presented with a two-month history of a congested left eye. At presentation, visual acuity was 20/20 in the right eye and 20/80 in the left eye. Biomicroscopy showed conjunctival hyperaemia in the left eye with a slight elevation, suggesting a subconjunctival mass. Retinal fluorescein angiography and optical coherence tomography (OCT) revealed the presence of CME in the left eye. A clinical examination revealed nodular lesions in the ears and a lump in the subcutaneous tissue of the left arm. A biopsy of the subcutaneous lesion showed histological and immunohistochemical characteristics of RDD. The patient was treated with intravitreal triamcinolone (0.1 mL/4 mg). One month after treatment, there was complete regression of the oedema with a significant improvement in visual acuity to 20/20.This is the first reported case of RDD associated with cystoid macular oedema. Macular oedema responded to intravitreal treatment with triamcinolone.

SUBMITTER: Siqueira RC

PROVIDER: S-EPMC5557076 | biostudies-other | 2017 Aug

REPOSITORIES: biostudies-other

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Bone Involvement in Rosai-Dorfman Disease (RDD): a Case Report and Systematic Literature Review.

Project description:Purpose of reviewRosai-Dorfman disease (RDD) is a rare histiocytic disorder typically presenting as painless cervical lymphadenopathy. Extranodal involvement is common and may also affect bones. Here, we present a patient with typical nodal disease and multifocal bone manifestations. Further, a systematic literature review was performed to better understand the phenotype, clinical course and treatment options of such patients.Recent findingsRDD is a nonmalignant, classically sporadic histiocytosis. Nevertheless, increasing evidence also suggests familial forms of the disease. According to our literature review, bone involvement is exceedingly rare and heterogeneous. Clinical outcome in terms of mortality seems to be favorable in most cases. Currently, therapy strategies include surgical and immunosuppressive treatments, but the optimal treatment of osseous RDD remains to be defined. Patients with osseous RDD may present to rheumatologists with arthralgia or arthritis. Due to the rarity of the disease, diagnosis and treatment remain challenging.

| S-EPMC5388731 | biostudies-literature

A fatal case of Rosai-Dorfman disease.

Project description:As Rosai-Dorfman Disease presents generally nonspecific symptoms, differential diagnosis can be of great learning curve for physicians. Additionally, RDD does not usually threaten life and spontaneous remission is frequently observed. However, unusually in our case the patient passed away within 1 month of confirmed diagnosis.

| S-EPMC5538056 | biostudies-other

Rosai dorfman disease of the orbit.

Project description: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.

| S-EPMC2474646 | biostudies-literature

Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention.

Project description:Hereditary retinal diseases are now the leading cause of blindness certification in the working age population (age 16-64?years) in England and Wales, of which retinitis pigmentosa (RP) is the most common disorder. RP may be complicated by cystoid macular oedema (CMO), causing a reduction of central vision. The underlying pathogenesis of RP-associated CMO (RP-CMO) remains uncertain, however, several mechanisms have been proposed, including: (1) breakdown of the blood-retinal barrier, (2) failure (or dysfunction) of the pumping mechanism in the retinal pigment epithelial, (3) Müller cell oedema and dysfunction, (4) antiretinal antibodies and (5) vitreous traction. There are limited data on efficacy of treatments for RP-CMO. Treatments attempted to date include oral and topical carbonic anhydrase inhibitors, oral, topical, intravitreal and periocular steroids, topical non-steroidal anti-inflammatory medications, photocoagulation, vitrectomy with internal limiting membrane peel, oral lutein and intravitreal antivascular endothelial growth factor injections. This review summarises the evidence supporting these treatment modalities. Successful management of RP-CMO should aim to improve both quality and quantity of vision in the short term and may also slow central vision loss over time.

| S-EPMC5256121 | biostudies-literature

Isolated extradural Rosai-Dorfman disease causing the spinal cord compression: A case report.

Project description:RATIONALE:Rosai-Dorfman disease (RDD) is a rare benign histiocytic disease that is commonly characterized by massive painless cervical lymphadenopathy and systemic manifestations. Isolated extranodal involvement, especially spinal involvement, is extremely rare. PATIENT CONCERNS:A 28-year-old man presented with intermittent dorsodynia and bilateral lower-limb weakness and numbness. A magnetic resonance scan (MRI) showed an extradural lesion of the T6-T9 thoracic spine that lead to cord compression. DIAGNOSES:Histopathological findings showed distinctive emperipolesis and immunohistochemistry results that were positive for cluster of differentiation CD68 and S100. Therefore, we diagnosed the Rosai-Dorfman disease. INTERVENTIONS:we performed a nearly total surgical resection and a limited T6-T9 laminectomy. OUTCOMES:Postoperatively, the patient's symptoms were partially relieved and experienced no recurrence during the 6-month follow-up. The preoperative diagnosis of isolated spinal RDD still remains challenging. LESSONS:Thus, we should consider RDD in the differential diagnosis of the central nervous system. Besides surgical resection, the treatment also included radiation, chemotherapy or monoclonal antibodies. However, the optimal treatment remains controversial. Therefore, we should exert all our energies on the exploration of etiology and adjuvant therapy for this disease.

| S-EPMC6200482 | biostudies-other

Steroid responsive cavernous sinus syndrome due to Rosai-Dorfman disease: beyond Tolosa-Hunt syndrome - a case report.

Project description:BackgroundThe term "Tolosa-Hunt syndrome" (THS) has been used to refer to painful ophthalmoplegia associated with nonspecific inflammation of the cavernous sinus and many processes can result in a similar clinical picture, including infectious, inflammatory and neoplastic diseases. Rosai-Dorfman disease (RDD) is a lymphoproliferative disorder that rarely affects the central nervous system. We report a case of isolated CNS Rosai-Dorfman disease involving the cavernous sinus and presenting as "Tolosa-Hunt syndrome".Case presentationOur patient presented with horizontal diplopia due to impairment of cranial nerves III, IV and VI and a stabbing/throbbing headache predominantly in the left temporal and periorbitary regions. There was a nonspecific enlargement of the left cavernous sinus on MRI and the patient had a dramatic response to steroids. Biopsy of a frontal meningeal lesion was compatible with RDD.ConclusionsWe highlight the importance of including Rosai-Dorfman disease as a differential diagnosis in cavernous sinus syndrome and demonstrate a satisfactory long-term response to steroid treatment in this disease.

| S-EPMC8256567 | biostudies-literature

Sinus histiocytosis with massive lymphadenopathy (rosai-dorfman disease): a case report and literature review.

Project description:Introduction Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph node enlargement. Histologically, it shows proliferation of distinctive histiocytic cells that demonstrate emperipolesis in the background of a mixed inflammatory infiltrates. Immunohistochemically, the cells are positive for markers such as CD68 and S100. Objective To report a case of a 12-year-old patient with multiple sites of cervical lymphadenitis, which was diagnosed as RDD histopathologically as well as immunohistologically. Resumed Report A 12-year-old girl presented with multiple painless sites of cervical lymphadenitis without any systemic and other ear, nose, and throat manifestations. The biopsy report of the lymph node showed dilatation of the sinuses, filled with histiocytes having foamy cytoplasm. Many of the histiocytes were engulfing mature lymphocytes. The sinus histiocytes were strongly positive for S-100 protein. Conclusion RDD must be considered in the differential diagnosis of massive or multiple lymphadenopathies.

| S-EPMC4297041 | biostudies-other

Rosai-Dorfman disease as a rare cause of cervical lymphadenopathy - case report and literature review.

Project description:Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, benign clinical entity of unknown cause. RDD is characterised by the overproduction and accumulation of histiocytes, primarily in the lymph nodes, although it may affect every organ and system. It predominantly affects children and young adults. Typically, patients are in good general condition, with massive cervical lymphadenopathy and fever. In about 40% of cases extranodal localisation of RDD is diagnosed. In laboratory tests the most common abnormalities are increased erythrocyte sedimentation rate (ESR), leukocytosis with neutrophilia, normocytic anaemia, and hypergammaglobulinaemia. Histopathological examination remains the mainstay of diagnosis - lymph nodes have massive sinusoidal dilation, containing histiocytes positive for S-100 and CD68, and negative for CD1a. Most patients do not require treatment as spontaneous remissions are observed. We present a brief review of the literature and the case of a six-year-old boy with cervical lymphadenopathy diagnosed with RDD. So far, the patient has not required systemic treatment and has been kept under observation.

| S-EPMC6305605 | biostudies-other

Clinicopathological features, treatment approaches, and outcomes in Rosai-Dorfman disease.

Project description:Rosai-Dorfman disease is a rare subtype of non-Langerhans cell histiocytosis. With the last major report published in 1990, there is a paucity of contemporary data on this disease. Our objective was to report the clinicopathological features, treatments and outcomes of patients seen at a tertiary referral center. Sixty-four patients with histopathological diagnosis of Rosai-Dorfman disease were identified from 1994 to 2017 (median age 50 years; range, 2-79). The median duration from symptom onset to diagnosis was seven months (range, 0-128), which was also reflected in the number of biopsies required to establish the diagnosis (median 2; range, 1-6). The most common presentation was subcutaneous masses (40%). Of the 64 patients, 8% had classical (nodal only) and 92% had extra-nodal disease (67% extra-nodal only). The most common organs involved were skin and subcutaneous tissue (52%), followed by lymph nodes (33%). Three patients had an overlap with Erdheim-Chester disease, which had not been described before. Two of these were found to have MAP2K1 mutations. Commonly utilized first line treatments were surgical excision (38%) and systemic corticosteroids (27%). Corticosteroids led to a response in 56% of the cases. Of those treated initially, 15 (30%) patients developed recurrent disease. The most commonly used systemic agent was cladribine (n=6), with 67% overall response rate. Our study demonstrates that Rosai-Dorfman disease has diverse clinical manifestations and outcomes. While this disease has been historically considered a benign entity, a subset of patients endures an aggressive course necessitating the use of systemic therapies.

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Case Report: Pericardial Effusion Treated With Pericardiectomy Plus Right Atrial Mass Resection: A 2-Year Follow-Up of Cardiac Rosai-Dorfman Disease.

Project description:Background: Rosai-Dorfman disease (RDD) is rare a sinus histiocytosis typically causing lymphadenopathy. Heart involvement is anecdotal, and <30 cases of cardiac RDD (cRDD) have been reported so far. Case Presentation: A 46-year old woman with positive clinical history for RDD was admitted to our cardiology department with transthoracic echocardiography diagnosis of severe pericardial effusion and right atrial masses. Pericardiocentesis with catheter insertion was performed 3 days after the admission due to clinical evidence of cardiac tamponade. After 10 weeks of maximal medical therapy for inflammatory pericarditis, including non-steroidal anti-inflammatory drugs (NSAIDs), colchicine, steroids, and anakinra, at least 100 ml of pericardial citric liquid has been daily drained suggesting no clinical improvement. Pericardial liquid analysis demonstrated no malignant cells, but immunohistochemical analysis resulted positive for AE1-AE3, D2-40, S100, and CD68 consistent with an RDD diagnosis. Surgical management was judged clinically indicated, and 2 months after admission, the patient underwent pericardiectomy and debulking of atrial mass with freezing of remaining atrial neoformation. Regular clinical and echocardiography evaluation was performed without pericardial effusion recurrence after 2 years of follow-up. Conclusions: This is the first case ever reported of cRDD who survived after 2 years of follow-up. Pericardiectomy could be feasible and effective for recurrent pericardial effusion in cRDD. Close follow-up and a multidisciplinary environment is needed to take care of cRDD patients.

| S-EPMC8200491 | biostudies-literature

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