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Histopathology Jul 2022The 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...
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.
Topics: Cyclin D1; Histiocytosis, Sinus; Humans; Kelch-Like ECH-Associated Protein 1; NF-E2-Related Factor 2; Sinusitis
PubMed: 35426462
DOI: 10.1111/his.14664 -
Saudi Medical Journal Apr 2022To document the clinicopathological features of Rosai-Dorfman disease (RDD) at 2 tertiary hospitals in the western region of Saudi Arabia.
OBJECTIVES
To document the clinicopathological features of Rosai-Dorfman disease (RDD) at 2 tertiary hospitals in the western region of Saudi Arabia.
METHODS
We retrieved all cases diagnosed as RDD at King Abdulaziz University Hospital and King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia, diagnosed between January 2001 until June 2021.
RESULTS
A total of 13 new RDD cases were reported, including 7 nodal and 6 extranodal type. The extranodal sites included larynx, optic chiasm, dura and brain, lumbar vertebrae, and left arm soft tissue.There were 6 males and 7 females. Ages averaged 34 years and ranged from 4-56 years. A total of 2 cases were associated with Hodgkin's lymphoma, and 2 cases have been initially misdiagnosed as other entities. All patients were treated with surgical excision, and steroid was added in 3 cases. Over 2-60 months of follow-up, recurrence occurred in 2 cases.
CONCLUSION
Awareness of this entity is important for pathologists to avoid misdiagnosis. While the optimal treatment remains controversial, surgical resection is generally curative. The prognosis is good with rare recurrence. Multicenteer prospective studies are probably the best to evaluate treatment options and improve outcomes.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Histiocytosis, Sinus; Humans; Male; Middle Aged; Prognosis; Prospective Studies; Saudi Arabia; Tertiary Care Centers; Young Adult
PubMed: 35414611
DOI: 10.15537/smj.2022.43.4.20220028 -
Pediatric Investigation Mar 2022Rosai-Dorfman disease (RDD) is an uncommon, benign, and idiopathic histiocytic proliferative disorder. Multiple intracranial RDD is extremely rare and treatment varies.
INTRODUCTION
Rosai-Dorfman disease (RDD) is an uncommon, benign, and idiopathic histiocytic proliferative disorder. Multiple intracranial RDD is extremely rare and treatment varies.
CASE PRESENTATION
A 9-year-old girl was admitted with 3-month history of blurred vision and facial paralysis, a 2-month history of recurrent giggle, and cognitive impairment. Computed tomography and magnetic resonance imaging scans revealed bilateral ventricular masses based on the dural membrane and the diameters of the masses were 9.1 cm and 9.2 cm, respectively. The lesions were completely removed with staging surgeries. Fifteen months after operation, blurred vision was still present but facial paralysis and giggle and cognitive impairment disappeared. Imaging examinations suggested that there were no new or recurring lesions.
CONCLUSION
For multiple large intracranial masses, surgical treatment is necessary and staged surgery benefits perioperative safety. Active follow-up with magnetic resonance imaging is necessary.
PubMed: 35382423
DOI: 10.1002/ped4.12306 -
BMJ Case Reports Mar 2022Classic Rosai-Dorfman-Destombes disease (RDD) is a rare histiocytic disorder with bilateral massive painless cervical lymphadenopathy. It is a mysterious disease and...
Classic Rosai-Dorfman-Destombes disease (RDD) is a rare histiocytic disorder with bilateral massive painless cervical lymphadenopathy. It is a mysterious disease and there is little knowledge of its pathogenesis, clinical features, radiological findings, laboratory investigations, effective treatments and prognosis. Some of its clinical presentations may overlap with those of infection. Just like tuberculosis infection, RDD may involve many other organs, for example, skin, kidney, bone, brain and spine. The diagnosis can easily be overlooked, especially in communities hyperendemic to tuberculosis infection. We report our experience in diagnosing and managing a patient with spinal RDD with concurrent tuberculosis infection, who was treated empirically for cervical tuberculous lymphadenitis without a conclusive laboratory finding prior to her spinal condition. In view of her acute neurological deficit, emergency spinal decompression was performed. Her intraoperative spinal samples had shown classic histopathological features of RDD. We believe the lymphadenopathy was part of the clinical presentation of RDD. She showed favourable neurological recovery throughout the follow-up.
Topics: Female; Histiocytosis, Sinus; Humans; Lymphadenopathy; Spinal Diseases; Spine; Tuberculosis, Lymph Node
PubMed: 35321909
DOI: 10.1136/bcr-2021-245360 -
International Journal of... Oct 2021Rosai Dorfman disease is a rare histiocytic disorder of over-production of non-Langerhans histiocytes, which typically manifests with massive lymphadenopathy and...
Rosai Dorfman disease is a rare histiocytic disorder of over-production of non-Langerhans histiocytes, which typically manifests with massive lymphadenopathy and sinonasal involvement. We report a rare case of systemic and disseminated craniospinal Rosai Dorfman disease with intraparenchymal and leptomeningeal involvement, but no sinus or dural-based disease. The diagnosis was established by biopsy of a hypothalamic mass. Additionally, UCSF500 Next Generation Sequencing demonstrated a solitary pathogenic alteration affecting the BRAF oncogene, which supports the morphologic and immunohistochemical diagnosis of Rosai-Dorfman disease.
PubMed: 35291666
DOI: 10.18502/ijhoscr.v15i4.7482 -
The Journal of International Medical... Mar 2022Rosia-Dorfman disease (RDD) is a rare benign disease with exceedingly rare neural involvement. In this report, we describe a very rare case of intracranial RDD mimicking...
Rosia-Dorfman disease (RDD) is a rare benign disease with exceedingly rare neural involvement. In this report, we describe a very rare case of intracranial RDD mimicking a subdural hematoma. The patient presented with headache and a suspected history of head injury. Head computed tomography showed a well-demarcated extra-axial crescentic hyperdense lesion along the right hemisphere convexity, and this lesion was initially mistaken for a subacute subdural hematoma with brain contusion. However, the follow-up examinations during the subsequent month did not show the natural changes characteristic of a subdural hematoma. Thus, a magnetic resonance imaging scan was performed, which showed a crescentic lesion with T1 isointensity, T2 hypointensity, and obvious homogeneous enhancement. Differential diagnoses such as lymphoma and metastases were considered, and surgery was performed. The final histopathologic examination confirmed the diagnosis of RDD. This report describes a rare presentation of RDD. RDD can mimic the appearance of a subdural hematoma and should be considered as a differential diagnosis even in patients with a history of head injury and a "classic" imaging appearance of a subdural hematoma.
Topics: Craniocerebral Trauma; Hematoma, Subdural; Histiocytosis, Sinus; Humans; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 35282682
DOI: 10.1177/03000605221083750 -
European Journal of Case Reports in... 2022Rosai-Dorfman-Destombes disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare non-Langerhans cell histiocytosis of unknown cause. The disease often...
UNLABELLED
Rosai-Dorfman-Destombes disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare non-Langerhans cell histiocytosis of unknown cause. The disease often manifests as painless bilateral cervical lymphadenopathy associated with systemic symptoms such as fever and weight loss. Extranodal disease is also frequent and can involve any organ, mostly the skin, nasal cavity, bone, and retro-orbital tissue. Swelling of cartilaginous tissues, such as the helix of the ear or laryngeal structures, may mimic the entity known as relapsing polychondritis. Although spontaneous remission is the most expected evolution, some cases require systemic treatment with prednisone, methotrexate or cytotoxic agents, with variable rates of success. In this respect, since somatic variants in the genes involved in the mitogen-activated protein kinase (MAPK) and extracellular signal-regulated kinases (ERK) pathway have been observed to play a pathogenic role in RDD. Therefore, the use of therapies targeting these pathogenic variants appears to be a reasonable strategy. Here we present the case of a 37-year-old woman with RDD and extensive extranodal involvement that showed a rapid and complete response to the MEK inhibitor cobimetinib.
LEARNING POINTS
Rosai-Dorfman-Destombes disease (RDD) may mimic the entity known as relapsing polychondritis but should be treated with drug therapy for the underlying disease.Mutations in MAPK/ERK pathway components should be determined in RDD with systemic involvement, although testing to determine every somatic mutation responsible for the disease is not available in all healthcare centres.MEK inhibitors like cobimetinib could be effective in RDD cases with severe and refractory systemic disease, even if molecular analysis has not been possible.
PubMed: 35265540
DOI: 10.12890/2022_003076 -
Orphanet Journal of Rare Diseases Mar 2022Rosai-Dorfman-Destombes disease (RDD) is a rare histiocytic disorder with heterogeneous clinical manifestations and rare neurologic involvement. The existing clinical...
BACKGROUND
Rosai-Dorfman-Destombes disease (RDD) is a rare histiocytic disorder with heterogeneous clinical manifestations and rare neurologic involvement. The existing clinical literature about neurologic RDD has yet to be critically examined.
METHODS
We performed a four-database English-language systematic literature search for cases of RDD neurohistiocytosis, excluding secondary literature. Individual patient data for neurologic symptoms, disease sites, treatments, and responses were captured. Responses to first-line and second-line surgical interventions, post-surgical radiotherapy, and systemic therapies were analyzed.
RESULTS
Among 4769 articles yielded by literature search, 154 articles were fully reviewed, containing data on 224 patients with neurologic RDD. 128 (83.1%) articles were single case reports. 149 (66.5%) patients were male, 74 (33.5%) female, with a median age of 37.6 years (range 2-79). Presenting neurologic symptoms included headache (45.1%), focal neurological deficits (32.6%), visual symptoms (32.1%), and seizures (24.6%). RDD involvement was multifocal in 32 (14.3%) cases. First-line treatment involved resection in 200 (89.6%) patients, with subsequent progression in 52 (26%), including 41 (78.8%) with unifocal disease. No difference was observed in progression-free survival comparing post-operative radiotherapy to no radiotherapy following partial resection. Chemotherapy given alone as first-line treatment led to complete or partial response in 3/7(43%) patients. Second-line treatments led to complete or partial response in 18/37(37.5%) patients. Mutational data were reported on 10 patients (4.46%).
CONCLUSIONS
This review highlights the limited published data about neurologic RDD, which presents with varied symptomatology and outcome. Further study is needed about its mutational landscape, and more effective therapies are needed for recurrent and refractory disease.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Histiocytosis, Sinus; Humans; Male; Middle Aged; Nervous System; Young Adult
PubMed: 35236371
DOI: 10.1186/s13023-022-02220-0 -
Medicine Feb 2022Rosai-Dorfman disease (RDD) is a rare, benign, self-limiting disease, also known as sinus histiocytosis with giant lymphadenopathy. Skeletal involvement is rare, and...
RATIONALE
Rosai-Dorfman disease (RDD) is a rare, benign, self-limiting disease, also known as sinus histiocytosis with giant lymphadenopathy. Skeletal involvement is rare, and this isolated bone lesion usually occurs in adults with no other symptoms. It is estimated that 0.6% to 1% of RDD cases have isolated or complicated spinal lesions, which may occur in the bone, dura, and spinal parenchyma, but spinal RDD has no pathologic clinical or imaging features.
PATIENT CONCERNS
A 25-year-old woman presented with complaints of low back pain without obvious causes for a month.
DIAGNOSIS
RDD with spinal involvement.
INTERVENTIONS
Resection of the spinous process of the third lumbar spine was performed under epidural anesthesia.
OUTCOMES
At the time of discharge, the patient had no problems with autonomous activities and reported no discomfort. We also followed up the patient at 12 and 36 months after surgery, and the patient reported no discomfort, inconvenience, and no recurrence of symptoms. Imaging examination 1 year after surgery showed no recurrence.
LESSON
This case suggests that surgery for RDD with spinal involvement may not require internal fixation.
Topics: Adult; Anesthesia, Epidural; Female; Histiocytosis, Sinus; Humans; Low Back Pain; Lumbar Vertebrae; Lymphadenopathy; Musculoskeletal System; Vertebral Body
PubMed: 35212270
DOI: 10.1097/MD.0000000000028413 -
Ear, Nose, & Throat Journal Feb 2022Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is an uncommon histiocytic disease with idiopathic etiology and unique...
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is an uncommon histiocytic disease with idiopathic etiology and unique pathology. Extra-nodal RDD that occurs in the nasal cavity is extremely unusual and the characteristic clinical features are unknown. Herein, we report a case of nasal septum RDD, with intermittent epistaxis from the left nasal cavity, which led to collapse of the nasal bridge. The patient underwent surgical biopsy, and a diagnosis of nasal septum RDD was established. No further treatment was performed. An enlarged mass was found in the second postoperative year which was treated by surgical excision in the third postoperative year. To improve the current diagnostic and therapeutic approach of extra-nodal RDD, we incorporate previous reports from the literature to discuss the pathological characteristics, pathogenesis, clinical manifestations, diagnosis, and therapy for this rare disease.
PubMed: 35171732
DOI: 10.1177/01455613221079500