Synchronous occurrence of primary cutaneous B-cell lymphoma and cutaneous Rosai-Dorfman disease in distinct lesions: A unique association.

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a rare subtype of reactive histiocytosis which is seldom associated with Hodgkin's and non-Hodgkin's lymphomas. To date, the coexistence in the same patient of extra nodal SHML and primary cutaneous B-cell lymphoma (PCBCL) has been reported in the literature, as metachronous diagnosis in the anatomical area of the original PCBCL or synchronous occurrence in the same lesions. However, no data have been published as for synchronous occurrence of the two pathological entities in distinct anatomical sites. Herein, we report the first ever described synchronous occurrence of PCBCL and SHML, detected in distinct lesions, affecting the same patient. The complete resolution of the patient's PCBCL after rituximab treatment and the concomitant regression of SHML suggest that this clinically benign reactive histiocytic proliferation, potentially triggered by the lymphoma microenvironment itself, may take place not only in the site of the PCBCL lesion, but also in other distant areas not directly affected by the primary cutaneous lymphoma.

Surgical resection of pediatric craniocervical junction Rosai-Dorfman histiocytosis-a case report and literature review.

Rosai-Dorfman disease (RDD) with craniocervical junction involvement is a rare clinical entity. We present herein a case of a pediatric patient with craniocervical junction RDD which was surgically treated. A 10-year-old female with a history of B-cell acute lymphoblastic leukemia (B-ALL) in remission and RDD presented with frontal migraine headaches. She previously had a right posterior chest wall lesion which was biopsy-proven RDD. She was found on imaging to have a dural-based right craniocervical junction lesion. Given her history of B-ALL, after a multidisciplinary discussion, the decision was made to proceed with resection with possible initiation of cobimetinib or clofarabine. The patient underwent a suboccipital craniotomy, C1 laminectomy, and resection of the dural-based lesion. Gross total resection was achieved, and histopathology confirmed the diagnosis of RDD. She was discharged home on postoperative day 4. No recurrence was seen on follow-up imaging at 3 months. We conducted a systematic literature review examining all cases of pediatric intracranial RDD and all cases of craniocervical junction RDD. This represents, to the best of our knowledge, only the second case of pediatric craniocervical junction RDD. Although RDD is often self-limiting, medical treatment is often considered for intracranial disease, but tissue confirmation is necessary. Surgical resection provides histopathologic diagnosis and can sometimes serve as definitive treatment for a particular lesion.

Clinical features, diagnosis, treatment and prognosis of otolaryngological extranodal sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease, RDD).

PURPOSE: To investigate the clinical features, diagnosis, treatment and prognosis of otolaryngological extranodal RDD. METHODS: A retrospective analysis was performed on 16 patients who were initially diagnosed and treated with otolaryngological extranodal RDD in our hospital from January 2013 to January 2019. RESULTS: There were 9 females and 7 males. The mean diagnostic age was 45.35. Nasal, laryngeal and otic RDD were, respectively, accounting for 56.25%, 31.25% and 12.5%. The median interval diagnostic time was individually 1, 0.5 and 0.2 year for nasal, laryngeal and otic RDD. The most common symptoms were separately progressive nasal congestion, dyspnea, otorrhea in nasal, laryngeal and otic RDD. 13 had cervical lymph node swelling on MRI. Surgery or postoperative radiotherapy were conformed. In the end, 14 patients with RDD survived. The survival rate is as high as 87.5%. One of them died of RDD in the fifth year. One case was lost to follow-up 2 years after treatment. Patients survive for at least 2 years and up to 9 years. There was no significant difference in life expectancy of extranodal RDD among different parts of ENT (P = 0.508 > 0.05). The average ages of laryngeal and nasal RDD were similar (P = 0.898 > 0.05). However, the age of both was significantly higher than ear RDD (P = 0.023 and 0.019 < 0.05). CONCLUSIONS: The average diagnostic age was more than 20 years. Nasal RDD was the most common in this area. All laryngeal RDD had infiltrated subglottis. Functional surgery and postoperative radiotherapy can be used to achieve long-term remission and survival.

Rosai-Dorfman disease with spinal and multiple intracranial involvement: a case report and literature review.

Rosai-Dorfman disease (RDD) is a condition of unknown etiology, and characterized by the proliferation of histiocytes. RDD most commonly affects lymph nodes, and central nervous system (CNS) involvement is rare. Here, we describe the case of a 43-year-old man who presented with an intradural tumour of the thoracic spine. The patient underwent a laminectomy for tumour resection and pathology results diagnosed the tumour as a RDD. Two years later, brain magnetic resonance imaging (MRI) revealed multiple intracranial dural-based lesions. Prednisolone treatment was initiated and led to resolution of the disease. We reviewed the literature to the investigate clinical characteristics, imaging features, diagnosis and treatment protocols pertaining to such cases.

Limited sinonasal Rosai-Dorfman disease presenting as chronic sinusitis.

AIMS: The sinonasal tract is a common extranodal site for Rosai-Dorfman disease (RDD). Recently, histiocytes with features of RDD were identified in the clinical setting of chronic sinusitis. This study evaluates whether this phenomenon should be considered part of the RDD spectrum or classified separately as RDD-like histiocytes. METHODS AND RESULTS: We prospectively collected 13 cases showing histological features of RDD in chronic sinusitis patients and identified 14 with similar findings (3.5%) via retrospective review of 403 sinus contents over 2 years. All 27 cases displayed nodular aggregates of eosinophilic histiocytes with intermixed lymphoplasmacytic inflammation, prominent eosinophils and emperipolesis. The histiocytes were positive for S100 protein and cyclin D1 and negative for CD1a and CD207. All patients presented with severe chronic sinusitis without tumour formation or systemic symptoms. Twelve patients with follow-up (55%) required repeat sinus surgery compared with just 43 other sinusitis patients evaluated (11%); features of RDD were present in their additional specimens. Two cases that underwent targeted next-generation sequencing (20%) had oncogenic mutations in NF1 and KEAP1. CONCLUSIONS: Overall, these findings confirm diagnostic histological and immunohistochemical features of RDD in a subset of chronic sinusitis specimens. While patients uniformly lack systemic involvement or tumefactive growth, they have a high risk of recurrent sinus disease. Although the relatively subtle nature of the findings raises consideration of separate classification, the presence of occasional oncogenic mutations and evidence of consistent MAPK/ERK pathway activation via cyclin D1 positivity suggests that this phenomenon represents a unique limited manifestation of RDD.

Lymphocytes and sinus histiocytosis in tumor and matched lymph nodes as predictors of survival in non-small-cell lung cancer.

Aim: To analyze immune cell populations in non-small-cell lung cancer (NSCLC) tumors and matched tumor-bearing and non-tumor-bearing lymph nodes (ntbLNs) to predict prognosis. Patients & methods: 71 patients with long-term disease-free survival and 80 patients with relapse within 3 years were included in this study. We used Cox regression to identify factors associated with overall survival (OS) and progression-free survival (PFS). Results: Sinus histiocytosis and tumor-infiltrating lymphocyte density in the tumor were positively associated with PFS and OS. CD4 expression in node 1 (hazard ratio = 0.72; p = 0.02) and node 2 (hazard ratio = 0.91; p = 0.04) ntbLNs were positively correlated with OS and PFS, respectively. Discussion: Immunological markers in ntbLNs could be used to predict survival in NSCLC.

Lay abstract Aim: We analyzed populations of immune cells in non-small-cell lung cancer (NSCLC). In addition, we also investigated lymph nodes from the same patient that contained or did not contain cancer cells. Patients & methods: We included 71 patients whose cancer did not return within 3 years and 80 patients whose cancer did return within 3 years after they underwent surgery to remove their tumors. We used various statistical methods to identify factors that can predict survival. Results: Sinus histiocytosis (a widening of ducts in the lymph nodes due to an increased number of certain cells) and the density of tumor-infiltrating lymphocytes (immune cells that enter the tumor to destroy it) can predict how long patients can survive after surgery or if their tumor will come back quickly. Discussion: Looking at immune cells can help physicians decide which patients need increased follow-up care due to an increased risk for their tumors to return.

Rosai-Dorfman-Destombes (RDD) disease presenting as palindromic rheumatism.

BACKGROUND: Rosai-Dorfman-Destombes (RDD) disease, is a rare proliferative and inflammatory disorder of non-Langerhans cell histiocytes. CASE PRESENTATION: We report a 35-year-old woman, who originally presented with recurrent episodes of lower extremity joint/bone pain and chronic nasal stuffiness and congestion. Her worsening nasal congestion was due to an obstructing nasal cavity lesion which was subsequently biopsied. Pathology was consistent with RDD. 18F-FDG PET images demonstrated intense uptake in the paranasal sinuses and a large pelvic lymph node. Focal osseous lesions with intense 18F-FDG uptake were also observed in the lower extremity, corresponding to areas of peri-articular pain. Rheumatologic work-up was consistent with palindromic rheumatism. She was diagnosed with immune-related disseminated RDD, presenting as palindromic rheumatism. CONCLUSIONS: This is the first case of RDD presenting as palindromic rheumatism. RDD should be considered as a possible but rare diagnosis in young patients with sinus-related symptoms and lymphadenopathy. The disease can on rare occasions be disseminated and can also present as immune-related RDD, such as in this patient.

[Non-Langengars type of sinus histiocytosis with maxillofacial skin lesions (Rosai-Dorfman disease). Clinical case description]. / Sinusovyi gistiotsitoz nelangengarsnogo tipa s porazheniem kozhi chelyustno-litsevoi oblasti (bolezn' Rozai­Dorfmana). Klinicheskoe nablyudenie.

In maxillofacial surgery, there are periodic cases of long-lasting chronic inflammation of the soft tissues without the positive effect of the conservative treatment. In these cases, questions arise of a detailed analysis of the etiology and pathogenesis of the disease, differential diagnosis of the pathological process, including those rarely encountered in the practice of a maxillofacial surgeon. One of these diseases is Rosai Dorfman's disease, which refers to extranodal histiocytosis. In domestic and foreign literature, single clinical observations are found without a detailed analysis of the diagnostic algorithm and the choice of treatment tactics. This article presents a clinical case of Rosai-Dorfman disease of a 55-year-old patient with a lesion of the soft tissues of the maxillofacial region. The described case took place in the clinic of maxillofacial surgery of the Research Institute of Dentistry of Surgical and Maxillofacial Surgery PSPbGMU named after academician I.P. Pavlova in the period from 2016 to 2019. Given the complexity of the diagnosis of this rare nosological form, we offer a specific examination algorithm that leads to a multidisciplinary comprehensive approach from disease verification to the choice of treatment tactics.

Rosai-Dorfman disease with renal involvement and associated autoimmune haemolytic anaemia in a 12-year-old girl: A case report.

BACKGROUND: Rosai- Dorfman Disease (RDD) is a benign condition of unknown aetiology which is characterized by non-neoplastic proliferation of histiocytes. Pathophysiology and natural history remain obscure due to the low prevalence of disease. It is known to present with nodal or extranodal involvement and occurrence in the genitourinary system could lead to dreadful complications. RDD is diagnosed by demonstrating emperipolesis on histology and supported by S100 positivity in immunohistochemistry. Treatment is tailored individually and includes expectant monitoring, steroids, surgery, chemotherapy and radiotherapy. Prognosis will be poor if there is involvement of vital organs. We report a rare case of renal Rosai-Dorfman Disease in a 12-year-old girl which also associated with cold type autoimmune haemolytic anaemia (AIHA). CASE PRESENTATION: A previously healthy, 12-year-old girl presented with low grade fever and cough over one month. On examination, she was pale, mildly icteric and had a firm mass in the left hypochondrial region. Her blood count revealed significant eosinophilia, normocytic normochromic anaemia and thrombocytosis. Further laboratory investigations revealed reticulocytosis, positive urine urobilinogen, positive direct antiglobulin test and red blood cell agglutination on blood picture suggestive of autoimmune haemolytic anaemia. Ultrasound scan of abdomen revealed paraaortic and left side retroperitoneal lymphadenopathy with left renal mass. It was further evaluated by Contrast Enhanced Computed Tomography (CECT). Biopsy was done and that concluded sinus histiocytosis with massive lymphadenopathy (SHML) with positive S100 and CD1a in immunohistochemistry. Child was treated with steroids however there was no significant response as assessed by repeat CT and has been commenced on chemotherapy. CONCLUSION: RDD is believed to be due to host immune dysregulation and precise diagnosis is imperative. It should be considered as differential diagnosis in a child presenting with massive lymphadenopathy and AIHA. Association between RDD and AIHA may possibly be explained by abnormal immune response of the host.

Primary cutaneous Rosai-Dorfman disease; a case-based review of a diagnostically and therapeutically challenging rare variant.

Primary cutaneous Rosai-Dorfman disease is a rare form of Rosai-Dorfman disease limited to the skin. The diagnosis of primary cutaneous disease is based on a combination of clinical presentation, histopathology, and the detection of S100+, CD68+, and CD1a- histiocytic immunophenotyping. However, the diagnosis of primary cutaneous disease is often difficult and significantly delayed due to the non-specific nature of its histologic and clinical features. In this review, we describe four cases in order to familiarize pathologists and dermatopathologists with the clinicopathologic correlation of primary cutaneous Rosai-Dorfman disease and to help facilitate early diagnosis. In addition, we discuss the proposed pathophysiology and molecular etiology of this tumor, and its relationship with IgG4 sclerosing disease.

Rosai-Dorfman disease successfully treated with thalidomide: A case report.

Rosai-Dorfman disease (RDD) is a rare disease which characterized by proliferation and overproduction of histiocytes in the lymph nodes appearing as lymphadenopathy, however, it may also occur in extranodal sites. The occurrence of unusual manifestations of the disease such as the appearance of the mass in an unusual area may increase the probability of misdiagnosis. Herein, we describe a case of RDD in an old woman with an unusual appearance of RDD in the leg that was successfully treated by thalidomide.

A comprehensive assessment of cutaneous Rosai-Dorfman disease.

BACKGROUND: Cutaneous Rosai-Dorfman (CRD) disease is a rare entity that is characterized by histiocytic proliferation in the skin. The disease has been reported to exhibit different clinical profiles and occasionally confounding histologic features that may be challenging for a correct diagnosis. The purpose of this study was to assess the pathobiology and highlight the variance in clinical and histologic spectrum of the disease based on published literature. METHODS: A PUBMED search was performed to retrieve cases of cutaneous Rosai-Dorfman disease published in the literature. A PRISMA-guided review of the included articles was performed. Three interesting case reports from our institution are also described. RESULTS: A total of 263 patients, of which 220 with purely cutaneous disease were identified in 152 studies. The mean age at presentation was 45.2 years with a slight female preponderance, and East-Asian, Caucasian and African populations being largely affected. Majority of the patients presented with multiple lesions, predominantly on limbs and comprising of nodules, plaques and papules that were occasionally pigmented. The classis histologic findings included large foamy histiocytes, exhibiting emperipolesis and a specific immunophenotype (S100+, CD68+, CD1a-). Inconspicuous emperipolesis, fibrosis, increased vascularity, neutrophilic microabscesses and concurrent langerhans cell histiocytosis and lymphoma in few cases highlighted the importance of immunohistochemistry for a definitive diagnosis. The disease shows an indolent and benign course with excision and chemotherapy being most effective for extensive and refractory cases. CONCLUSIONS: This review of largest cohort of CRD patients provides an updated insight into the clinicopathologic features with possible diagnostic pitfalls and effective therapeutic options that should be useful in diagnosis, management and future research opportunities.

Giant isolated transcranial Rosai-Dorfman disease with diffuse involvement of nasal and paranasal tissues: case report and literature review.

Rosai-Dorfman disease (RDD) is an uncommon systemic histioproliferative disease process characterized by sinus histiocytosis with massive lymphadenopathy, and isolated transcranial RDD (ITRDD) is extremely rare. We report a patient with giant ITRDD with diffuse involvement of nasal and paranasal tissues, showing favorable response to postoperative steroid therapy.

Rosai-Dorfman's disease, an uncommon cause of common clinical presentation.

Sinus histiocytosis with massive lymphadenopathy also known as Rosai-Dorfman disease is a rare benign disease that typically manifests as lymphadenopathy with or without systemic manifestations whose etiology remains poorly understood. Most common clinical presentation is painless bilateral cervical lymphadenopathy. However, it also can present in various extranodal sites and can easily be missed because of its rarity if not considered in the differential diagnosis. It commonly occurs in children and young adults with a slightly male predominance. Clinically patients may be mistaken for lymphoma and other infectious disorders like tuberculosis especially in developing countries like in Pakistan where tuberculosis is more prevalent. Here we report a case of a 38-years-old gentleman with bilateral cervical lymphadenopathy and worsening ascites. His symptoms initially mimicking tuberculosis and lymphoma, was finally diagnosed as having Rosai-Dorfman's Disease on intra abdominal lymph node biopsy.

Systemic Rosai-Dorfman disease with central nervous system involvement.

Rosai-Dorfman disease (RDD) is a rare idiopathic and lymphoproliferative disorder. Central nervous system (CNS) involvement is infrequent and typically manifests as an isolated lesion. In this article, we describe an unusual case of RDD with multiple lesions in the CNS, upper respiratory tract and lymph nodes. A literature review revealed 45 cases (including the one described herein) of systemic RDD with CNS involvement documented to date. Among these cases, 29 (64.4%) presented with intracranial lesions, 10 (22.2%) with spinal lesions and 6 (13.3%) with both. While the condition of most patients was stable, only four died from RDD or for other reasons. Prognosis is good for most patients, even those with extensive lesions. Although there are various treatments for RDD, surgery is preferred. Given the rarity of RDD, multicenter international collaborations are advocated in order to study disease pathogenesis and develop effective treatment strategies.

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

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.

[Rosai-Dorfman disease: the review of the literature and the clinical observation of the extranodal form of the disease with the involvement of mucous membranes of the nose and paranasal sinuses]. / Bolezn' Rozai-Dorfmana: obzor literatury i klinicheskoe nabliudenie ékstranodal'noi formy zabolevaniia s porazheniem slizistoi obolochki nosa i okolonosovykh pazukh.

Rosai-Dorfman disease originally known as sinus histiocytosis with massive lymphadenopathy is a rare non-neoplastic condition of unexplored etiology characterized by a benign clinical picture. The present article summarizes the results of the literature publications and clinical observations of the extranodal form of Rosai-Dorfman disease manivfested as the lesions of mucous membranes of the nose and paranasal sinuses.

Spinal Rosai-Dorfman disease: case report and literature review.

OBJECTIVE: Sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman disease (RDD) is a rare benign disease of dubious etiology that arises predominantly in lymph nodes with generalized fever and malaise. Isolated intraspinal involvement has its unique characteristics. The purpose of this study is to present the largest series of cases in the spinal Rosai-Dorfman disease literature to increase familiarity with its clinicopathologic features, diagnosis, and treatment of RDD from spine. METHODS: We present the case of a 34-year-old man who presented with paraplegia secondary to an isolated thoracic vertebral lesion. On physical exam, the patient displayed progressive weakness and tendon hyperreflexia of the lower limbs. After a totally section, symptoms of the patient were obviously relieved and the patient remained asymptomatic and no signs of recurrences were observed after follow-up for 5 months. We also retrospectively analyzed 60 cases of patients with spinal RDD published in English since 1969. Clinical date, histopathology, and radiological feature were retrospectively analyzed. RESULTS: Spinal RDD should no longer be considered rare and it may occupy an increasingly prominent place in the list of differential diagnoses for intraspinal lesions. Only elaborate histopathology was diagnostic for RDD. Most of the patients were surgically treated and marked improvements were observed in their clinical conditions. CONCLUSIONS: RDD with spinal involvement is uncommon and it is challengeable in making a certain diagnosis. Histopathologic characteristics and immunohistochemical findings are considered as the key points for the diagnosis of this disease. The optimal treatment remains controversial, and more efforts should be focused on the investigation of etiology and adjuvant therapy for relapsing cases or subresected lesions.

Primary Rosai-Dorfman disease of the femur.

We report a 19-year-old man with the rare occurrence of primary osseous Rosai-Dorfman disease (RDD). The patient presented with a painful, solitary, bone marrow-replacing lesion in the distal femur. A diagnosis of chronic osteomyelitis was initially made on tissue from a CT-guided needle biopsy of the lesion; however, the diagnosis of RDD was eventually made after histological and immunohistochemical analysis of material from a subsequent curettage. No lymphadenopathy or other sites of involvement were found on clinical evaluation and PET-CT. To our knowledge, this is the first report of solitary osseous RDD based on systemic staging with PET-CT. We review the clinical, imaging, and histological features of primary osseous RDD, including pitfalls in diagnosis.

Rapid, de novo development of isolated intracranial rosai-dorfman disease: A case report.

Isolated intracranial Rosai-Dorfman Disease is rare. Here, we describe a patient who developed an asymptomatic, right parietal RDD lesion over 18 months while being followed radiographically for another brain lesion. To our knowledge, rapid, de novo radiographic formation of isolated intracranial RDD has never been reported in an asymptomatic patient.