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.

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-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.

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'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.

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.

Radiotherapeutic outcomes of Rosai-Dorfman disease with falx cerebri and superior sagittal sinus involvement: A rare case report with long-term follow-up.

Key Clinical Message: Intracranial RDD is rare medical event mimicking different diagnoses. Although the surgical resection is the best treatment option, but radiation therapy can also achieves long-term suboptimal outcomes. Abstract: An 83-year-old male with a history of tension-type headaches was evaluated. He was conscious with no focal neurological deficits. His brain MRI revealed an enhancable bifrontal tumor originating from falx cerebri and superior sagittal sinus dura. Due to the patient's preference and decline for gross total resection, she underwent a stereotactic biopsy. The pathology was positive for Rosai-Dorfman diseases. He received definitive targeted radiation with a total dose of 4500 cGy administered in 200 cGy daily fractions. His 4-year follow-up showed regional tumor control with excellent neurological outcome.

Extranodal Rosai-Dorfman disease manifesting as Sjögren's syndrome combined with panuveitis and hypertrophic pachymeningitis: a case report and review of literature.

Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by massive lymphadenopathy and systemic extranodal lesions. We present the case of a 28-year-old woman who presented with recurrent blurred vision in her right eye for 3 months. She developed blindness and atrophy in her left eye a decade prior to presentation. She subsequently developed headache, fever, and impaired mental status. Cranial magnetic resonance imaging indicated hypertrophic pachymeningitis (HP), and 18F-fluoro-2-deoxy-2-d-glucose (FDG) positron emission tomography/computed tomography revealed significant FDG uptake in the left dura mater. Autoimmune testing revealed elevated anti-nuclear, anti-SS-A, and anti-SS-B antibody levels. Incisional biopsy of the atrophic eyeball revealed RDD with marked polyclonal plasmacytosis. The patient was diagnosed with RDD accompanied by multisystem involvement, including Sjögren's syndrome (SS), panuveitis, and HP. Treatment with methylprednisolone for several weeks resulted in significant improvement. This is the first reported case of RDD presenting with SS in combination with panuveitis and HP. Although RDD is rarely diagnosed in young patients, interdisciplinary collaboration is essential to prevent a delayed diagnosis.

Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review.

BACKGROUND: Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis. CASE PRESENTATION: Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation. CONCLUSIONS: No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.

Rosai-Dorfman disease as chronic bilateral granulomatous anterior uveitis: A case report.

Rosai-Dorfman disease is a rare non-Langerhans cell histiocytosis disorder, also known as sinus histiocytosis, with massive lymphadenopathy. Rosai-Dorfman disease is classified into nodal and extranodal diseases. Ocular involvement is one of the common extranodal manifestations; however, uveitis manifestation is infrequent. We reported an interesting Rosai-Dorfman disease patient who presented with chronic bilateral granulomatous anterior uveitis with disc hyperemia and cystoid macular edema. She was a 60-year-old Thai female who had abnormal skin nodules on her back after multiple recurrent chronic anterior uveitis. The diagnosis has been made based on a constellation of the patient's information, physical examination, and histopathological results. We successfully treated the patient with topical steroids, posterior subtenon triamcinolone 20-mg injection, and methotrexate.

A rare case of facial cutaneous Rosai-Dorfman disease clinically mimicking basal cell carcinoma followed by multiple myeloma after 2 years.

Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis disorder characterized by the proliferation of histiocytes within the lymph nodes. Extranodal involvement can occur; however, only 10% of extranodal RDD involve the skin. We present a unique case of a 66-year-old woman with cutaneous RDD followed by the development of multiple myeloma (MM). To our knowledge, this is only the second reported case where RDD preceded a diagnosis of MM, with the first documented instance occurring in 2018. The patient presented to the dermatology clinic with a 5-year history of painless, solitary lesion over the right cheek. Local examination revealed a single 6 mm x 7 mm well-circumscribed pearly telangiectatic lesion resembling basal cell carcinoma over the right nasolabial fold and cheek. The lesion was excised with a 3 mm circumferential margin. Histopathology showed a mixed lymphohistiocytic cell infiltrate with emperipolesis and immunohistochemical staining patterns consistent with RDD. Two years later, the patient presented with hip pain and was diagnosed with MM. She was treated with lenalidomide, bortezomib, and dexamethasone, and was later maintained on lenalidomide. Our case adds to the limited evidence suggesting a potential association between RDD and MM. Further research in this field is required to promptly identify and manage patients with such a presentation in the future.

Mammary Rosai-Dorfman disease: Rare benign mimic of breast malignant neoplasm.

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is an uncommon benign disorder characterized by the accumulation of activated histiocytes in affected tissues. While RDD typically involves lymph nodes, it may manifest as extranodal involvement. Breast involvement is an exceedingly rare presentation of this condition with <100 reported cases worldwide. This report presents a case of RDD in a 58-year-old male patient who presented with a palpable breast mass. Mammography and ultrasound imaging studies raised concerns for malignancy, prompting a breast biopsy. Histopathological examination revealed S100-positive pale histiocytes exhibiting emperipolesis, consistent with RDD. The management of extranodal RDD is individualized, as no standardized guidelines are currently available. However, surgical excision is recommended for unicentric breast lesions, which was performed in our case, resulting in complete remission. The patient has remained disease-free under surveillance with computed tomography scans. Our case underscores the importance of considering RDD in the differential diagnoses of breast masses and highlights the utility of surgical excision as an effective treatment option, especially for unicentric breast lesions of RDD.

Bilateral Ocular Rosai-Dorfman Disease Presenting as Diffuse Anterior Scleritis with Multiple Enlarging Epibulbar Masses.

PURPOSE: To report a unique case of extranodal Rosai-Dorfman disease (RDD) presenting as bilateral scleritis, which progressed to multifocal epibulbar masses. METHODS: Retrospective chart review. RESULTS: A 35-year-old Asian man presented with progressive pain and redness in both eyes for 4 months. Examination revealed bilateral diffuse scleral congestion and areas of scleral thinning. The cornea and anterior chamber of each eye were unremarkable. Despite oral corticosteroid and immunosuppressive treatment, scleritis progressed to multifocal epibulbar masses. Tissue biopsy specimens revealed foamy macrophages with histiocytes staining positive for CD68 and S100, confirming a diagnosis of RDD. Systemic evaluation was unremarkable for lymphadenopathy or extranodal involvement. The patient was started on systemic chemotherapy and at last follow up after 1 year, all epibulbar lesions were completely resolved. CONCLUSIONS: Rosai-Dorfman disease can present as bilateral scleritis initially and develop epibulbar masses without any systemic involvement. Biopsy with immunohistochemical analysis can aid in the diagnosis.

Recurrent central nervous system Rosai-Dorfman disease with KRAS mutation: a case report.

BACKGROUND: Rosai-Dorfman disease (RDD) is a rare, non-Langerhans cell histiocytosis of unknown etiology. we report a very rare case of recurrent central nervous system RDD with KRAS gene mutation and review the literature to improve our understanding of this disease. CASE PRESENTATION: A 19-year-old male patient was admitted to our hospital for headache. Cranial magnetic resonance imaging revealed a mass of abnormal signal shadows in the prepontine cistern. The mass was surgically removed and the patient was consequently diagnosed with intracranial Rosai-Dorfman disease. Seven months later, pathological examination confirmed that the RDD had recurred. Next-generation sequencing found KRAS mutation in exon 4 (C.351A > C. P. K117n). CONCLUSION: RDD of the CNS has no distinct clinical manifestations and imaging characteristics, and the final diagnosis should be based on the results of the pathological examination. Although RDD is not currently classified as a neoplastic disorder, some evidence of clonality has changed our understanding of it. Follow up examinations over a long period are necessary to determine the efficacy of treatment.

A Rare Cause of Lymphadenopathy in a Young Hispanic Female: Unmasking Recurrent Nodal Rosai-Dorfman Disease.

Rosai-Dorfman disease (RDD) is a rare histiocytic disorder that can present with painless bilateral symmetrical cervical lymphadenopathy, mimicking lymphomas. RDD is characterized by excessive tissue infiltration by dendritic cells, macrophages, or monocyte-derived cells, with a histopathologic diagnosis based on the presence of CD68+, CD163+, and S100+ histiocytes, which differentiate it from other histiocytic neoplasms. In this case report, we present a young Hispanic female with recurrent subcutaneous growths and lymphadenopathy, initially thought to be lymphoma, who was diagnosed with RDD after a significant diagnostic workup. Treatment initially consisted of surgical excision; however, due to recurrence, the patient was successfully treated with corticosteroids and a steroid-sparing agent, 6-mercaptopurine, with significant improvement in symptoms. RDD should be considered a differential diagnosis for patients with cervical lymphadenopathy, and an interdisciplinary approach is essential to managing this rare disorder effectively. The report highlights the need for an interdisciplinary approach to managing this rare disorder effectively and underscores the importance of multimodal treatment in disease suppression. As a rare disease with slow advancement of defined guidelines for diagnostic and treatment strategies, this case report adds to the existing literature on RDD.

A meta-analysis of cases of Rosai Dorfman disease reported on the African continent and a description of two cases from a tertiary academic hospital in Johannesburg, South Africa.

Rosai-Dorfman-Destombes disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by the accumulation of activated histiocytes within affected tissues. The original haematopathological description of RDD has links to the late South African born haematopathologist, Ronald Dorfman, with a descriptive account of two cases of the disease treated at Chris Hani Baragwanath Academic Hospital are described herein. Alongside the two case descriptions is a meta-analysis of 149 published cases from the African continent. Sequential literature searches were performed on Google Scholar and PubMed with the search terms "sinus histiocytosis with massive lymphadenopathy", "Rosai-Dorfman disease", "Rosai-Dorfman Destombes" and "lymphadenopathy" together with the name of each individual country on the African continent, from Algeria to Zimbabwe. All possible cases of RDD reported in published literature from Africa were captured on a Microsoft Excel spreadsheet recording details, where available, of demographics, nodal (nodal groups) or extra-nodal disease as well as treatment. Of the 54 African countries on the continent, published data was available from half of these countries (n=27). Nigeria (35), Tunisia (25) and South Africa (23) contributed the majority of cases for data collection with a clear paucity of reportable information available from Central Africa. Of the 149 cases from the African continent, the majority were from patients aged ten years and younger with a decrease in reported cases in patients with increasing age. The mean age at diagnosis was 25.66 years [95% CI: 21.81-29.51] with a median age of diagnosis of 24.5 years. The youngest patient in the series was 3 months old and the oldest patient aged 72 (range 71.75 years, IQR 31). The cases reported were fairly split between males and females with a male-to-female ratio of 1.07: 1. HIV seropositivity was reported in seven patients (4.8%) and no HIV results were available in 104 patients (71.2%). Disease presentation was split between nodal disease in 43% of patients (n=64), Extra nodal (EN) disease in 32.9% (n=32), mixed (nodal/EN) disease in 11.4% (n=17) and unknown in 12.8% (n=19). Fever was present in 18.1% (n=27) of cases. Hepatic enlargement was noted in nine patients (6%) and splenic enlargement in four patients (2.7%). Commonly ascribed sites of EN disease, in descending order, were skin and soft tissue, ocular, ear/nose/throat (ENT), abdominal organ(s), bone, lung/pleura, brain parenchyma (including dura), endocrine glands, spine, breast, pericardium, pseudotumour formation (unspecified site), joint(s), peripheral nerves and genitourinary tract disease. The upfront administration of glucocorticosteroids was seen in the majority of cases. Rosai-Dorfman-Destombes, although a rare disorder, should be considered as a differential diagnosis in patients with massive bilateral cervical lymphadenopathy and is confirmed with accompanying pathological changes on microscopic and immunohistochemical examination of biopsy specimens. The role of infection, particularly HIV infection, is considered to be a possible contributor to the pathogenesis of RDD and HIV testing in patients from areas of high HIV endemicity with co-existing RDD should be undertaken. Consideration for mycobacterium tuberculosis infection in patients with generalized significant lymphadenopathy still remains an important differential for massive lymphadenopathy and requires confirmation by appropriate microbiological investigations. The treatment landscape in RDD is limited in many resource-poor settings, with the upfront use of glucocorticosteroids employed routinely in the majority of cases.

Rosai-Dorfman Disease in a Pediatric Patient: Imaging Findings and Pathology with a brief review of the Literature.

Rosai-Dorfman Disease, otherwise known as sinus histiocytosis with massive lymphadenopathy, is a rare form of non-Langerhans cell histiocytosis with an estimated incidence of 100 cases per year in the United States. Due to its variable presentation and nonspecific clinical findings, it is particularly difficult to diagnose in pediatric patients. We report a case of an 11-month-old male who presented with a 4-day history of a right groin mass. Ultrasound of the groin and pelvis demonstrated, and MRI of the abdomen and pelvis confirmed an inguinal mass with surrounding lymphadenopathy. Pathology confirmed Rosai-Dorfman Disease and the patient improved after starting oral steroid therapy. To the best of our knowledge, this is the first case of Rosai-Dorfman Disease involving the inguinal region in an infant under 1 year of age reported in the literature. In this case report, we discuss the imaging and histology findings as well as provide a brief literature review for this diagnosis.