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

ABSTRACT: 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.

SUBMITTER: Pradhananga RB

PROVIDER: S-EPMC4297041 | biostudies-other | 2014 Oct

REPOSITORIES: biostudies-other

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Laryngeal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy): A Retrospective Study of 5 Cases.

Project description:This study was performed to investigate the clinical manifestations, treatment methods, and prognosis of Rosai-Dorfman disease (RDD) with laryngeal involvement. Five clinical cases of RDD with laryngeal involvement diagnosed between 1986 and 2015 were retrospectively analyzed. The laryngeal lesions of these 5 patients mostly involved the glottis and subglottis, with the main symptoms being a hoarse voice and airway obstruction. In addition, the patients mostly exhibited a unilateral or asymmetric onset that was manifested by a laryngeal submucosal nodular mass. The patients were subjected to a regimen of hormone treatment combined with surgical resection. The median follow-up duration was 101 months (8-384 months). One case was lost, and the remaining 4 subjects are alive with disease. The follow-up examinations revealed that 4 subjects had stable laryngeal conditions, whereas one showed minor progression. RDD with laryngeal involvement is clinically rare and differs considerably from classical RDD in age of onset, gender composition, and extranodal involvement. The regimen of hormone treatment combined with surgical resection can stabilize the patient's general condition and laryngeal lesion. Tracheotomies are recommended for patients with dyspnea. After their conditions stabilize, decannulation can be successfully performed in most cases. This therapeutic regimen generally delivers a good prognosis.

| S-EPMC5523292 | 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

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

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

Diagnosis and treatment of Rosai-Dorfman disease of the spine: a systematic literature review.

Project description:PurposeTo review and summarize the clinical features, diagnosis, treatment strategies, and prognosis of spinal Rosai-Dorfman disease (RDD).MethodsRDD is also termed as sinus histiocytosis with massive lymphadenopathy. We searched the databases of PubMed, Elsevier ScienceDirect, SpringerLink, and OVID. The keywords were Rosai-Dorfman disease and spine/central nervous system. Research articles and case reports with accessibility to full texts regarding spinal RDD were eligible for the inclusion. A total of 62 articles were included, and they contained 69 cases. We extracted the information of interest and analyzed them using SPSS statistics package.ResultsThe average age was 33.1 ± 18.3 years. The ratio of males to females was 1.9/1. Overall, 63 cases presented with spine-related symptoms. A total of 27 cases (39.1%) had multi-organ lesions, and 12 cases had records of massive lymphadenopathy. Among 47 cases who first manifested spine-related symptoms, 93.6% were preoperatively misdiagnosed. The disease had a predilection for cervical spine (38.8%) and thoracic spine (40.3%). 62.9% of lesions were dura-based. Surgery remained the mainstream treatment option (78.8%), with or without adjuvant therapies. Total lesion resection was achieved in 34.8% of cases. The rate of lesion recurrence/progression was 19.5%, which was marginally lower for total resection than for non-total resection.ConclusionSpinal RDD has no pathognomonic clinical and imaging features. Most cases first present with spine-relevant symptoms. Massive lymphadenopathy is not common, but a tendency for multi-organ involvement should be considered. Spinal RDD has a high recurrence rate; thus, total resection is the treatment of choice. Adjuvant therapies are indicated for multi-organ lesions and residual lesions. A wait and watch strategy is recommended for asymptomatic patients. Herein, a workflow of diagnosis and treatment of the spinal RDD is established.

| S-EPMC7814441 | biostudies-literature

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

Project description:The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)). To elucidate the molecular basis of FHC, we performed autozygosity mapping studies in a large consanguineous family and identified a novel locus at chromosome 10q22.1. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD. Analysis of SLC29A3 expression during mouse embryogenesis revealed widespread expression by e14.5 with prominent expression in the central nervous system, eye, inner ear, and epithelial tissues including the gastrointestinal tract. SLC29A3 encodes an intracellular equilibrative nucleoside transporter (hENT3) with affinity for adenosine. Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD) can be included in a new diagnostic category of SLC29A3 spectrum disorder.

| S-EPMC2816679 | biostudies-literature

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

Project description: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.

| S-EPMC5557076 | biostudies-other

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

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

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

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