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SAGE Open Medical Case Reports 2024Rosai-Dorfman disease is a rare non-Langerhans cell histiocytosis disorder, also known as sinus histiocytosis, with massive lymphadenopathy. Rosai-Dorfman disease is...
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.
PubMed: 38505579
DOI: 10.1177/2050313X241239528 -
The American Journal of Case Reports Mar 2024BACKGROUND Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman disease, or Rosai-Dorfman-Destombes disease (RDD), is a rare non-Langerhans cell of...
BACKGROUND Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman disease, or Rosai-Dorfman-Destombes disease (RDD), is a rare non-Langerhans cell of unknown etiology. This report is of a case of isolated SHML, or Rosai-Dorfman disease, presenting as a right atrial mass with involvement of the tricuspid valve in a 54-year-old woman. This case shows the challenges of diagnosing this condition in the heart and the challenges of treating this rare disease with the limited information on the efficacy of the treatment modalities. CASE REPORT A 54-year-old Asian woman presented to the Emergency Department with chest and right upper quadrant pain. Transthoracic echocardiogram and computed tomography angiography showed a right atrium mass at the level of the tricuspid valve, causing moderate-severe regurgitation. Partial tumor debulking with biopsies later showed pink-yellow soft tissue, with histopathology showing histiocytes demonstrating emperipolesis. The tumor was positive for CD68 and S100 and negative for CD1a, consistent with Rosai-Dorfman disease. Subsequently the patient received targeted therapy with cobimetinib, without worsening cardiac function or disease progression. CONCLUSIONS This case highlights the challenging histopathological diagnosis of SHML, or Rosai-Dorfman disease, particularly in non-lymphoid tissue, such as the heart. Obtaining tissue for diagnosis can be challenging in this organ. Treatment is challenging when the mass cannot be extracted completely, like in our case, because other forms of therapies are not well studied and warrant further investigation, such as cobimetinib, which is a MEK pathway inhibitor approved in 2022 by the US Food and Drug Administration for histiocytic neoplasms.
Topics: United States; Female; Humans; Middle Aged; Histiocytosis, Sinus; Tricuspid Valve; Biopsy; Neoplasms
PubMed: 38501248
DOI: 10.12659/AJCR.942511 -
Pathologie (Heidelberg, Germany) May 2024A radiologically diagnosed tumor in a 29-year-old woman with a fever of around 39 °C was operated on under the suspicion of cholecystitis or a liver abscess....
A radiologically diagnosed tumor in a 29-year-old woman with a fever of around 39 °C was operated on under the suspicion of cholecystitis or a liver abscess. A solid tumor was found in the adrenal gland and resected. The frozen section findings did not reveal a clear diagnosis of entity and assignment. Histologically, the tumor was found to consist of densely clustered large histiocyte-like cells with expression of vimentin, CD68, and CD163 as well as negativity for keratin, langerin, and SMA. We diagnosed xanthogranulomatous adrenalitis and discussed the differential diagnoses (Langerhans cell histiocytosis, Rosai-Dorfman disease, malakoplakia, Erdheim-Chester disease).
Topics: Humans; Adult; Female; Diagnosis, Differential; Adrenal Gland Neoplasms; Xanthomatosis; Granuloma; Adrenal Gland Diseases; Erdheim-Chester Disease; Histiocytosis, Sinus
PubMed: 38472383
DOI: 10.1007/s00292-024-01312-x -
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 -
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 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 -
Autopsy & Case Reports 2023First described by J Rosai and R F Dorfman in 1969, Rosai-Dorfman disease (RDD) is a benign, self-limiting histiocytosis of unknown etiology. It is usually seen in the...
First described by J Rosai and R F Dorfman in 1969, Rosai-Dorfman disease (RDD) is a benign, self-limiting histiocytosis of unknown etiology. It is usually seen in the first two decades of life. The most frequent clinical presentation is painless, bilateral cervical lymphadenopathy accompanied by fever, weight loss, and an elevated ESR. However, RDD without nodal involvement is extremely rare, and the most common extranodal location is the head and neck region, mainly affecting the nasal cavity, pharynx, and paranasal sinuses. Oral location of RDD is occasional; according to our knowledge, only 17 cases of oral Rosai-Dorfman disease without lymph node involvement have been found in the literature. Because of the rarity of these isolated oral presentations, the clinical and radiological aspects need to be more studied. This article aims to present a rare case of oral Rosai-Dorfman disease without nodal involvement, detail the clinical and radiological signs, and the treatment strategy used in our patient.
PubMed: 38149069
DOI: 10.4322/acr.2023.463