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Clinical Neurology and Neurosurgery Apr 2024Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis involving the central nervous system in 5% of cases. Spinal location occurs in less than 1% of... (Review)
Review
INTRODUCTION
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis involving the central nervous system in 5% of cases. Spinal location occurs in less than 1% of extranodal RDD and can be responsible for neurological manifestations. We present a systematic review of cases of isolated spinal RDD. We also report a new case of isolated spinal RDD revealed by spinal cord compression.
MATERIALS AND METHODS
The systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline using the MEDLINE and SCOPUS databases and included case reports and case series describing isolated RDD of the spine.
RESULTS
There were 53 patients with isolated spinal RDD (including our case). The mean age was 35.85±16.48 years. Neurological deficit was the most frequent clinical presentation (89%). RDD lesions were mainly located in the thoracic spine (51%), then the cervical spine (32%). The lesion was reported to be extradural (57%), intradural extramedullary (26%), intramedullary (7%), and in the vertebral body (10%). Histological examination showed emperipolesis in 73%. Histocytes were positive for S-100 protein in 83%. Treatment was based on surgery 96%), radiotherapy, chemotherapy, and adjunctive steroid therapy were indicated in four, one, and eight cases. After a mean follow-up period of 14.84±13.00 months, recurrence of RDD was noted in 15%.
CONCLUSION
Spinal RDD is a rare condition, requiring meticulous histological examination for accurate diagnosis. Complete surgical resection is the treatment of choice. Adjuvant chemotherapy and radiotherapy can also be indicated in patients demonstrating partial improvement following surgery.
Topics: Humans; Young Adult; Adult; Middle Aged; Histiocytosis, Sinus; Spinal Cord Compression; Cervical Vertebrae; Central Nervous System
PubMed: 38461672
DOI: 10.1016/j.clineuro.2024.108206 -
Clinical Case Reports Mar 2024We introduced one of the rare causes of intra-cardiac mass, that is, ECD and a new gene mutation (SLC29A3) that is probably related to this disease, and we noted the...
KEY CLINICAL MESSAGE
We introduced one of the rare causes of intra-cardiac mass, that is, ECD and a new gene mutation (SLC29A3) that is probably related to this disease, and we noted the importance of using several diagnostic methods to rule out other intra-cardiac causes.
ABSTRACT
Edheim-Chester disease is a rare histiocytosis affecting multiple organs. The infiltration of lipid-laden histiocytes characterizes the disease. Most patients experience bone involvement; over 50% of cases involve the cardiovascular system and other extra-osseous organs. In this case report, we present the case of a 42-year-old man who complained of shortness of breath and bone pain. During echocardiography, a large, homogenous, and fixed mass was found in the right atrium free wall. Computed tomography and cardiac magnetic resonance imaging revealed an infiltrative mass in the RA with atrioventricular groove involvement but coronary sinus encasement, right coronary artery, and superior vena cava encasement. Abdominal CT scans also reported aortic wall involvement and bilateral renal cortical and perirenal involvement. A kidney biopsy confirmed the infiltration of histiocytes and the diagnosis of ECD. The treatment was initiated for him, and his symptoms improved. In this case report, we express the importance of considering the rare causes of cardiac tumors.
PubMed: 38455859
DOI: 10.1002/ccr3.8625 -
Indian Journal of Otolaryngology and... Feb 2024Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph node enlargement....
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. A 14-year-old boy presented with painless right sided cervical lymphadenopathy without any systemic and other ear, nose, and throat manifestations. The biopsy report of the lymph node showed infiltration of sheets of histiocytes showing emperipolesis with areas of fibrosis and hyalinisation. The sinus histiocytes were strongly positive for S-100 protein. RDD must be considered in the differential diagnosis of massive or multiple lymphadenopathies.
PubMed: 38440436
DOI: 10.1007/s12070-023-04254-7 -
Journal of Ayub Medical College,... 2023Previously classified as Non Langerhan cell histiocytosis by the Working Group of Histiocytic Society in 1987 Rosai Dorfman Destombes disease was first described by...
Previously classified as Non Langerhan cell histiocytosis by the Working Group of Histiocytic Society in 1987 Rosai Dorfman Destombes disease was first described by Destombes in 1965 and later in 1969 by Rosai and Dorfman as a rare histiocytic disorder with sinus histiocytosis and massive lymphadenopathy. They exist in both nodal and extranodal forms. Immunohistochemistry is an essential part of diagnosis to differentiate between Langerhans cell histiocytosis and another malignant histiocytosis. Some overlap has also been reported with IgG4-related diseases. We hereby reflect upon a patient who presented to our facility with pyrexia of unknown origin, the challenges faced to reach a diagnosis and the management offered.
Topics: Humans; Histiocytosis, Sinus; Lymphadenopathy; Fever; Immunohistochemistry; Diagnosis, Differential
PubMed: 38404101
DOI: 10.55519/JAMC-03-11450 -
Nigerian Journal of Clinical Practice Jan 2024Lymphadenopathy is usually due to benign or malignant conditions. It can also be local or systemic in distribution and can involve peripheral or deep-seated lymph nodes....
INTRODUCTION
Lymphadenopathy is usually due to benign or malignant conditions. It can also be local or systemic in distribution and can involve peripheral or deep-seated lymph nodes. This study aimed to determine the prevalence of lymphoma and the distribution pattern of lymph node pathologies among adult patients who presented with lymphadenopathy and its relationship with age and sex.
METHODS
A retrospective study was conducted, and a record of all cases of lymphadenopathy with histological diagnosis over 5-year period (January 2017 to December 2021) was extracted from Departments of Anatomical Pathology of Alex Ekwueme Federal University Teaching Hospital, Abakaliki. The data generated were analyzed using Statistical Package for Social Sciences (SPSS) software, version 26.
RESULTS
One hundred and ninety results were extracted with an age range of 18 to 94 years and a mean age of 41 ± 16 years. They were made up of 75 (39.5%) males and 115 (60.5%) females, with a male-to-female ratio of 1:1.5. The prevalence of lymphoma was 50.0% (95/190). Thirty-five (18.4%) were Hodgkin's lymphoma (HL), while 60 (31.6%) were non-Hodgkin's lymphoma (NHL). Other pathologies manifested by cases of lymphadenopathy include metastatic tumor deposits (38 (20%)), reactive lymphoid hyperplasia (29 (15.3%)), and tuberculous lymphadenitis (18 (9.5%)). Others include sinus histiocytosis (4 (2.1%)), dermatopathic lymphadenitis (5 (2.6%)), and Castleman's disease (1 (0.5%)).
CONCLUSION
About half of all patients who presented with lymphadenopathy were lymphoma with a high prevalence of 50%, and the majority were NHL. Other major causes of lymphadenopathy were metastatic tumor deposits, reactive lymphoid hyperplasia, and tuberculous lymphadenitis. Any case of lymphadenopathy should be properly investigated early for effective management.
Topics: Adult; Humans; Male; Female; Middle Aged; Adolescent; Young Adult; Aged; Aged, 80 and over; Retrospective Studies; Pseudolymphoma; Nigeria; Extranodal Extension; Lymph Nodes; Lymphadenopathy; Tuberculosis, Lymph Node; Lymphoma, Non-Hodgkin; Neoplasms
PubMed: 38317037
DOI: 10.4103/njcp.njcp_450_23 -
Journal Francais D'ophtalmologie Feb 2024Rosai-Dorfman disease (RDD) is a sinus histiocytosis with massive lymphadenopathy. This rare condition is a benign disease of unknown etiology. Bilateral orbital...
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.
Topics: Humans; Child; Histiocytosis, Sinus; Lymphadenopathy; Orbital Diseases; Biopsy; Tuberculosis
PubMed: 38310692
DOI: 10.1016/j.jfo.2024.104070 -
Journal of Cardiothoracic Surgery Feb 2024Tumor-like lesions of the trachea are rare and challenging in diagnosis and management. Inflammatory myofibroblastoma, also known as Inflammatory pseudo tumors (IPTs),...
BACKGROUND
Tumor-like lesions of the trachea are rare and challenging in diagnosis and management. Inflammatory myofibroblastoma, also known as Inflammatory pseudo tumors (IPTs), as well as Rosai Dorfman Disease (RDD) are inflammatory lesions that may involve the central airways with variable non-specific clinical features mimicking tumors.
CASE PRESENTATION
In this study 2 cases with tumor-like lesions are presented. One case with an inflammatory pseudotumor and the other one with Rosai-Dorfman disease affecting the upper trachea. Both cases were successfully managed with tracheal resection anastomosis.
CONCLUSION
Tracheal Inflammatory myofibroblastoma, and Rosai-Dorfman diseases are rare tumor like lesions that present with upper airway obstruction. Despite being benign, these lesions may have features suggestive of malignancy, requiring prompt management. Complete surgical excision by segmental resection and primary anastomosis (if feasible) is the treatment of choice with an optimum outcome.
Topics: Humans; Histiocytosis, Sinus; Trachea; Neoplasms; Anastomosis, Surgical; Neoplasms, Muscle Tissue
PubMed: 38310241
DOI: 10.1186/s13019-024-02532-1 -
Asian Journal of Surgery May 2024
Topics: Adult; Female; Humans; Male; Brain Diseases; Histiocytosis, Sinus; Magnetic Resonance Imaging
PubMed: 38307795
DOI: 10.1016/j.asjsur.2024.01.083 -
Cureus Dec 2023Rosai-Dorfman disease (RDD) was recognized as a distinct clinical entity by Rosai and Dorfman in 1969. It is a rare histiocytic proliferative disorder that occurs in...
Rosai-Dorfman disease (RDD) was recognized as a distinct clinical entity by Rosai and Dorfman in 1969. It is a rare histiocytic proliferative disorder that occurs in various locations and occasionally involves the central nervous system. In this article, we aim to describe a case of intracranial RDD and to provide a review of the literature on intracranial RDD in Saudi Arabia. A 37-year-old woman presented with a history of generalized seizures. Physical examination disclosed bilateral cervical lymphadenopathy with no neurological deficit. Brain magnetic resonance imaging (MRI) demonstrated an extra-axial, homogenous, Gadolinium-enhancing, space-occupying lesion with extensive dural involvement. The patient was successfully treated by total surgical resection. Postoperatively, the patient did not receive any adjuvant therapy. Biopsy with immunohistochemical analysis confirmed the diagnosis of intracranial RDD. On follow-up examination, six months later, there was no recurrence of the lesion. A preoperative diagnosis of intracranial RDD is challenging since its MRI appearance can be similar to other intracranial diseases. Herein, we discussed some neuroradiographic findings that might help distinguish RDD from other intracranial diseases.
PubMed: 38283458
DOI: 10.7759/cureus.51204 -
The Heart Surgery Forum Dec 2023Rosai-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...
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.
Topics: Humans; Histiocytosis, Sinus; Pericardium
PubMed: 38178342
DOI: 10.59958/hsf.6887