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.

[Pediatric orbital Rosai-Dorfman disease: An unusual case]. / Maladie de Rosai-Dorfman à localisation orbito-palpébrale de l'enfant : à propos d'une observation exceptionnelle.

INTRODUCTION: Rosai-Dorfman disease (RDD) is a sinus histiocytosis with massive lymphadenopathy. This rare condition is a benign disease of unknown etiology. Bilateral orbital localization of RDD is rare. OBSERVATION: The authors report the case of a 6-year-old child who presented with bilateral orbital-palpebral masses associated with chronic cervical lymphadenopathy. There were no laboratory signs of inflammation. Serological and tuberculosis screening tests were negative. Histopathological examination of a lymph node biopsy established a diagnosis of Rosai-Dorfman disease. The patient underwent surgical excision of the orbital lesions followed by long-term corticosteroid therapy. A favorable course was observed, with no sign of recurrence after one year of follow-up. CONCLUSION: Rosai-Dorfman disease is very rare in its bilateral orbital presentation. Histopathological diagnosis remains challenging. In Africa, the presence of chronic oculo-palpebral tumor associated with or without cervical lymphadenopathy must raise the suspicion of Rosai-Dorfman disease after ruling out tuberculosis and lymphoma.

Cardiac Manifestation of Rosai-Dorfman Disease: A Case Report and a Systematic Review.

BACKGROUND: Rosai-Dorfman disease is a rare condition that typically presents as a nodal disease. Cardiac involvement is extremely uncommon, occurring in 0.1-0.2% of cases, which has hindered our understanding. We report a case of Rosai-Dorfman disease (RDD) related cardiac manifestation in a patient without nodal involvement. Further, we conduct a comprehensive review of the literature to consolidate data on how patients with cardiac manifestations of RDD are typically managed and treated. METHODS: A systematic review of PubMed, Web of Science, and Embase was conducted to identify cases of RDD with cardiac involvement. Out of 464 studies identified, 42 publications encompassing 43 patients met the criteria and were incorporated in this review. We gathered data on patient demographics, as well as their management and treatment approaches. Additionally, we share our own experience with a patient who presented with a cardiac mass related to RDD. RESULTS: Out of the 43 patients, only 20.9% (n = 9) had a documented history of RDD prior to cardiac manifestations. Nodal involvement was reported in 32.6% (n = 14), while extranodal extracardiac involvement was reported in 46.5% (n = 20). Upon presentation, the most prevalent symptoms were dyspnea (48.8%, n = 21), chest discomfort (41.9%, n = 18), and lower extremity edema (16.3%, n = 7). Cardiac manifestations were most frequently found in the right atrium (41.9%, n = 18) and pericardium (18.6%, n = 8). Treatment encompassed systemic medical therapy (34.9%, n = 15) and cardiac surgery (39.5%, n = 17). The median follow-up period was 12 months (with a range of 1 to 36), and 8 patients (18.6%) experienced mortality. Our patient, who had a cardiac mass in the left atrium, underwent resection and has remained symptom-free without any recurrence for the past 5 years. CONCLUSION: The frequency of cardiac related-RDD manifestations may be greater than initially perceived. These results underscore the significance of identifying RDD and its cardiac-related presentations, facilitating timely diagnosis and treatment for affected individuals.

Rosai Dorfman's disease of the maxillary bone with soft tissue involvement of the cheek: Case Presentation and Literature Review / Enfermedad de Rosai Dorfman de maxilar con compromiso de partes blandas de mejilla: Presentación de caso y revisión de la literatura

The Rosai-Dorfman disease (RDD) is a bening entity, of unknown etiology, rare, characterized by the overproduction of histiocytes and their subsequent accumulation in the lymph nodes, which may also compromise other organs and systems. It predominantly affects young people. The histological study, which shows emperipolesis, is very indicative but not pathognomonic, but with the immunohistochemistry the diagnosis of the disease is reached, which does not have a well-protocolized treatment. Its evolution is highly variable, with spontaneous remission being a possibility, although in some cases the commitment is extensive, compromising important or vital anatomical structures that requiere vigorous treatment, which can be surgical, radiotherapy and even chemotherapy. We present a case of RDD that affected a 17-year-old girl with upper jaw and right maxillary sinus commitment, which began with loss of teeth, and subsequent appearance of a painless and deforming facial tumour that underwent surgical resection. In this case, the etiological diagnosis was not posible in the preoperative period despite multiple biopsies. An extensive review of the literature is carried out in order to a better understanding of this pathology.

La Enfermedad de Rosai-Dorfman (ERD) es una entidad benigna, de etiología desconocida, poco frecuente, caracterizada por la sobreproducción de histiocitos y su posterior acúmulo en los linfonodos, pudiendo comprometer también a otros órganos y sistemas. Afecta predominantemente a personas jóvenes. El estudio histológico, que muestra emperipolesis, es muy orientativa pero no patognomónica, aunque con la Inmunohistoquímica se llega al diagnóstico de la enfermedad que no tiene un tratamiento bien protocolizado. Su evolución es muy variable, siendo la remisión espontánea una posibilidad, no obstante, en algunos casos, el compromiso es extenso, comprometiendo estructuras anatómicas importantes o vitales que requieren de un tratamiento enérgico, pudiendo ser éste quirúrgico, radioterápico y aún quimioterápico. Se presenta un caso de ERD que afectó a una joven de 17 años, con compromiso de maxilar y seno maxilar derecho, que debutó con pérdida de piezas dentarias y posterior aparición de un tumor facial indoloro y deformante que fue sometido a resección quirúrgica. En este caso no fue posible el diagnóstico etiológico en el preoperatorio pese a múltiples biopsias. Se hace una extensa revisión de la literatura con el objeto de conocer mejor esta patología.

Rosai-Dorfman Disease: A rare cause of massive lymphadenopathy / Enfermedad de Rosai-Dorfman: una causa rara de linfadenopatía masiva

No disponible

Solitary extranodal Rosai-Dorfman disease of the mandible: an exceedingly rare presentation

Sinus histiocytosis with massive lymphadenopathy, generally known by the name of Rosai-Dorfman disease is a rare benign condition principally affecting cervical lymph nodes. Concurrent extra-nodal disease frequently occurs, however, solitary extra-nodal disease involving the mandible is exceedingly rare with less than five reported cases in the English literature. We describe a case of primary involvement of the mandible in a 27-year-old female, and discuss the differential diagnosis of this disease with other histiocytic lesions.

Enfermedad de Rosai-Dorfman renal. Presentación de un caso / Extranodal Rosai-Dorfman disease of the kidney. A case report

La afectación extranodal a nivel renal es una forma muy infrecuente de presentación de la histiocitosis sinusal con linfadenopatía masiva o enfermedad de Rosai-Dorfman. La etiopatogenia de esta enfermedad permanece aún desconocida. Los síntomas y signos de presentación en la afectación renal son muy variables, destacando una edad de aparición más avanzada que en la forma nodal clásica. Aunque es una enfermedad de buen pronóstico y curso clínico favorable en la mayoría de los casos, el bajo índice de sospecha y el difícil diagnóstico diferencial radiológico con el carcinoma renal suele conllevar la nefrectomía. Presentamos un caso de enfermedad de Rosai-Dorfman con afectación renal, con la peculiaridad de mostrarnos la evolución indolente pero progresiva que puede seguir la enfermedad no tratada(AU)

Extranodal involvement of the kidney is an unusual presentation of sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman disease. The etiopathogenesis of this disease is still unknown. Symptoms and signs of renal impairment are very variable and the age of appearance is greater than in classic nodal involvement. Usually, both the clinical course and prognosis are favourable. However, a nephrectomy is usually performed as renal cell carcinoma can not be ruled out radiologically. We present a case of Rosai-Dorfman disease with renal involvement associated with a gradual, asymptomatic evolution in an untreated patient(AU)

Histiocitosis sinusal con linfadenopatía masiva o enfermedad de Rosai-Dorfman / No disponible

No disponible

Histiocitosis sinusal cutánea (Enfermedad de Rosai-Dorfman) / Sinusoidal cutaneous histiocytosis (Rosai-Dorfman disease)

Se realiza una revisión de la enfermedad de Rosai-Dorfman, afección inmunológica del sistema de células dendítricas interdigitantes: a) con localización exclusiva en la piel en la histiocitosis sinusal cutánea, b) asociada a lesiones ganglionares linfáticas en la histiocitosis sinusal con linfadenopatía masiva, o c) afectar aisladamente a distintos órganos inclusive el Sistema Nervioso Central. Presentamos dos nuevos casos, ambos con lesiones cutáneas, uno asociado a una adenopatía. La histopatología muestra en la piel y ganglios similares alteraciones patológicas, caracterizadas por un granuloma histiocitoide constituido por células de Rosai-Dorfman (CR-D) con emperipolesis y aspecto espumoso, en las que se detectan lípidos, sin que se logren demostrar alteraciones lipídicas hemáticas. Su fenotipo inmunohistoquímico es similar al de las células dendríticas interdigitantes de la zona paracortical de linfocitos T de los ganglios linfáticos, que hipertrofiadas e hiperplasiadas se depositan en la luz de vasos sinusoides dilatados. Dicha hiperplasia histiocitoide no sería proliferativa y se vería aumentada numéricamente por el aporte migratorio de células de Langerhans,...(AU)

Obstrucción ureteral secundaria a enfermedad de Rosai-Dorfman / Ureteral obstructin secondary to Rosai-Dorfman disease

La obstrucción ureteral puede ser secundaria a múltiples causas. Presentamos un caso poco común dentro de la práctica urológica habitual, consistente en una forma de Histiocitosis denominada Enfermedad de Rosai-Dorfman, como origen de obstrucción ureteral extrínseca. En la presente comunicación describimos la forma de presentación, la metodología diagnóstica utilizada y el tratamiento propuesto (AU)

Ureteral obstruction can be secondary to a lot of reason. We present a uncommon case report of ureteral obstruction to Rosai-Dorfman disease. The form of clinic presentation is described, the diagnostic methods used and the therapeutic management

Enfermedad de Rosai-Dorfman (histiocitosis sinusal con linfadenopatía masiva) con afectación renal. A propósito de un caso / Rosai-Dorfman´s disease (sinus histiocytosis with massive lymphadenopathy) with renal complications. A case report

La enfermedad de Rosai-Dorfman es una rara entidad de etiología desconocida con afectación nodal y extranodal (43 por ciento de casos) y un curso prolongado habitualmente benigno. En ocasiones y generalmente en relación con un diagnóstico tardío y una amplia afectación extranodal puede incluso provocar la muerte del paciente. Presentamos un caso de enfermedad de Rosai-Dorfman en una paciente con afectación renal, describiendo los hallazgos radiopatológicos y recalcando la importancia de su conocimiento para no demorar un diagnóstico adecuado (AU)

Sinus histiocytosis with massive lymphadenopathy involving the orbit: reversal of compressive optic neuropathy after chemotherapy

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 (Au)