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Central-European Journal of Immunology 2018Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, benign clinical entity of unknown cause. RDD is characterised by... (Review)
Review
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, benign clinical entity of unknown cause. RDD is characterised by the overproduction and accumulation of histiocytes, primarily in the lymph nodes, although it may affect every organ and system. It predominantly affects children and young adults. Typically, patients are in good general condition, with massive cervical lymphadenopathy and fever. In about 40% of cases extranodal localisation of RDD is diagnosed. In laboratory tests the most common abnormalities are increased erythrocyte sedimentation rate (ESR), leukocytosis with neutrophilia, normocytic anaemia, and hypergammaglobulinaemia. Histopathological examination remains the mainstay of diagnosis - lymph nodes have massive sinusoidal dilation, containing histiocytes positive for S-100 and CD68, and negative for CD1a. Most patients do not require treatment as spontaneous remissions are observed. We present a brief review of the literature and the case of a six-year-old boy with cervical lymphadenopathy diagnosed with RDD. So far, the patient has not required systemic treatment and has been kept under observation.
PubMed: 30588179
DOI: 10.5114/ceji.2018.80055 -
Pathologica Oct 2021Rosai-Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytosis described by Rosai and Dorfman in 1969. It is a fascinating disease characterized by... (Review)
Review
Rosai-Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytosis described by Rosai and Dorfman in 1969. It is a fascinating disease characterized by accumulation of large, pale histiocytes, frequently showing the emperipolesis phenomenon. The variety of pathological aspects and the spectrum of different clinical forms were deeply investigated by Prof. Rosai. Despite recent advancements in the dissection of pathogenetic mechanisms of RDD, with the identification of gene mutations in the MAP kinase pathway, several biological and clinical aspects of this disease remains to be elucidated: this is one of the Prof. Rosai's legacies.
Topics: Histiocytes; Histiocytosis, Sinus; Humans
PubMed: 34837097
DOI: 10.32074/1591-951X-548 -
Orphanet Journal of Rare Diseases May 2023Rosai-Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytic disease. The aim of this study was to review the characteristics of RDD using F-FDG PET/CT... (Review)
Review
BACKGROUND
Rosai-Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytic disease. The aim of this study was to review the characteristics of RDD using F-FDG PET/CT and determine its efficacy in the disease management.
RESULTS
A total of 28 RDD patients underwent 33 F-FDG PET/CT scans for systematic assessment and follow-up. The common involved sites included the lymph nodes (17, 60.7%), upper respiratory tract (11, 39.3%), and skin (9, 32.1%). Five patients had more lesions detected in PET/CT images than in CT and/or MRI, including inapparent nodules (n = 5) and bone destruction (n = 3). After thorough treatment evaluation using PET/CT, the treatment strategies of 14 patients (14/16, 87.5%) were changed. Five patients underwent PET/CT twice during follow-up and the SUVs were significantly decreased (15.3 ± 3.4 vs. 4.4 ± 1.0, p = 0.02), which demonstrated disease improvement.
CONCLUSIONS
F-FDG PET/CT contributed to displaying the holistic characteristics of RDD, in particular during initial assessment, treatment strategy adjustment, or efficacy evaluation, and could compensate for some disadvantages of CT and MRI images.
Topics: Humans; Histiocytosis, Sinus; Positron Emission Tomography Computed Tomography; Fluorodeoxyglucose F18; Retrospective Studies; Positron-Emission Tomography
PubMed: 37179326
DOI: 10.1186/s13023-023-02711-8 -
Medicina (Kaunas, Lithuania) Oct 2021: Rosai-Dorfman disease (RDD) is a type of histiocytosis that usually appears in young adults or children as bilateral cervical lymphadenopathy, but extranodal... (Review)
Review
: Rosai-Dorfman disease (RDD) is a type of histiocytosis that usually appears in young adults or children as bilateral cervical lymphadenopathy, but extranodal involvement in not uncommon. Although the pathogenesis is not entirely elucidated, recent studies showed a possible neoplastic process. : Our manuscript presents a rare case of Rosai-Dorfman disease of the breast, the management of this rare case, and a literature review. There are few cases reported of RDD of the breast (around 90 globally reported cases); the data is poor, and the management not yet standardized for these cases. The case reported here shows the importance of correct breast investigation, breast imaging, and ultrasound-guided biopsy that provided an accurate diagnosis and guided further management. : Although RDD of the breast was rarely presented as bilateral disease in other case reports, our case showed bilateral breast disease with the suspicion of breast cancer on imaging. Pathology and immunohistochemistry were of critical importance and showed a specific pattern for histiocytosis. A multidisciplinary approach was taken into consideration for these cases in order to establish the approach. Some patients underwent surgery, but watchful waiting and close follow-up were the preferred approach. : RDD of the breast is a rare form of histiocytosis, with fewer than 100 globally published cases. Although the management of this disease is not established yet by guidelines, a follow-up approach should be enough for these patients, and surgery might be overtreatment. Mortality from RDD is very low due to comorbidities. A multidisciplinary team decision is important, and abstinence might significantly benefit these patients.
Topics: Breast; Breast Neoplasms; Child; Female; Histiocytosis, Sinus; Humans; Immunohistochemistry; Young Adult
PubMed: 34833385
DOI: 10.3390/medicina57111167 -
Journal of Cardiothoracic Surgery Jul 2021There were very few reports of Rosai-Dorfman disease in the thymus, which known as sinus histiocytosis with massive lymphadenopathy. It usually accompanied with other... (Review)
Review
BACKGROUND
There were very few reports of Rosai-Dorfman disease in the thymus, which known as sinus histiocytosis with massive lymphadenopathy. It usually accompanied with other systemic symptoms such as fever, malaise, night sweats, or weight loss in the short term. Case presentation We herein report a rare case of RDD of thymic origin and a review of the literature concerning the clinical and pathological features of this disease, which is often misdiagnosed as thymoma. The patient was underwent thymectomy to extirpate the lesion completely by video-assisted thoracic surgery.
CONCLUSIONS
To the best of our knowledge, this is the fourth thymus occurring RDD case with proof via histology and IHC. Our findings suggest the difficulty of making a diagnosis before surgery and more cases will need to be reported in order to facilitate the preoperative diagnosis of such a rare tumor.
Topics: Biopsy; Female; Histiocytosis, Sinus; Humans; Middle Aged; Neoplasm Recurrence, Local; Thorax; Tomography, X-Ray Computed
PubMed: 34332598
DOI: 10.1186/s13019-021-01595-8 -
Cureus Dec 2022Sinus histiocytosis with massive lymphadenopathy (SHML), an alternative term for Rosai-Dorfman disease (RDD), is a rare benign idiopathic...
Sinus histiocytosis with massive lymphadenopathy (SHML), an alternative term for Rosai-Dorfman disease (RDD), is a rare benign idiopathic immune-related lymphoproliferative condition. The central nervous system (CNS) has been documented to be involved in RDD, although lymph nodes are the organs that are most frequently and primarily associated with the disease manifestation. Nonetheless, CNS involvement in RDD is rare and poorly understood. As a result, there is a lack of a solid basis for therapeutic approaches for CNS involvement in RDD. Here, we present a case of RDD with cerebral involvement, a rare presentation of RDD with atypical symptoms. A brief assessment of the radiographic appearance, histological findings, and the peculiar manifestations of the disease is provided.
PubMed: 36660540
DOI: 10.7759/cureus.32605 -
Dermatology Online Journal Jan 2006Sinus histiocytosis with massive lymphadenopathy, or Rosai-Dorfman disease, is a benign idiopathic histiocytic proliferative disorder that commonly involves the lymph...
Sinus histiocytosis with massive lymphadenopathy, or Rosai-Dorfman disease, is a benign idiopathic histiocytic proliferative disorder that commonly involves the lymph nodes but secondarily may involve the skin. However, purely cutaneous disease without lymphadenopathy or internal organ involvement rarely may occur. We present case reports of three patients who presented with asymptomatic nonspecific enlarging skin nodules without evidence of lymphadenopathy or internal disease. Histopathologic examination of skin lesions in all patients showed proliferation of large histiocytes with phagocytosed inflammatory cells characteristic of Rosai-Dorfman disease. However, the diagnoses of dermatofibroma, other spindle cell neoplasm, infectious granulomatous process, and other xanthohistiocytic proliferations were also considered due to the presence of storiform spindle cells and foamy cells in the first case. One patient experienced regression during a course of oral steroids, while another patient cleared spontaneously. In the absence of massive lymphadenopathy characteristic of Rosai-Dorfman disease, the diagnosis of purely cutaneous Rosai-Dorfman disease may be complicated by the rarity, non-specific clinical appearance of skin lesions, and broad histopathological differential diagnosis of this disorder. A high index of suspicion of the clinician and pathologist is often required.
Topics: Adult; Aged; Diagnosis, Differential; Histiocytosis, Sinus; Humans; Male; Middle Aged; Remission, Spontaneous; Skin Diseases; Surgical Flaps
PubMed: 16638376
DOI: No ID Found -
European Radiology Nov 2023To compare neuroimaging characteristics of three types of histiocytoses, namely Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), and Rosai-Dorfman...
OBJECTIVES
To compare neuroimaging characteristics of three types of histiocytoses, namely Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), and Rosai-Dorfman disease (RDD), with central nervous system (CNS) involvement.
METHODS
A total of 121 adult patients with histiocytoses (77 LCH, 37 ECD, and 7 RDD) and CNS involvement were retrospectively included. Histiocytoses were diagnosed based on histopathological findings combined with suggestive clinical and imaging features. Brain and dedicated pituitary MRIs were systematically analyzed for tumorous, vascular, degenerative lesions, sinus, and orbital involvement and for hypothalamic pituitary axis involvement.
RESULTS
Endocrine disorders, including diabetes insipidus and central hypogonadism, were more common in LCH patients than in ECD and RDD patients (p < 0.001). In LCH, tumorous lesions were mostly solitary (85.7%), located in the hypothalamic pituitary region (92.9%), and without peritumoral edema (92.9%), while in ECD and RDD, tumorous lesions were often multiple (ECD: 81.3%, RDD: 85.7%), their distribution was more widespread with meninges mostly involved (ECD: 75%, RDD: 71.4%), and they most likely presented with peritumoral edema (ECD: 50%, RDD: 57.1%; all p ≤ 0.020). Vascular involvement was an exclusive imaging characteristic of ECD (17.2%), which was not observed in LCH or RDD; this was also associated with a higher risk of death (p = 0.013, hazard ratio = 11.09).
CONCLUSION
The typical characteristic of adult CNS-LCH was endocrine disorders with radiological findings limited to the hypothalamic pituitary axis. The pattern of multiple tumorous lesions with predominant involvement of meninges was the main manifestation of CNS-ECD and CNS-RDD, while vascular involvement was pathognomonic for ECD and associated with poor prognosis.
CLINICAL RELEVANCE STATEMENT
Involvement of the hypothalamic-pituitary axis is the typical imaging characteristic of Langerhans cell histiocytosis. Multiple tumorous lesions, predominantly involving but not limited to meninges, occur in most Erdheim-Chester disease and Rosai-Dorfman disease patients. Vascular involvement occurs only in Erdheim-Chester disease patients.
KEY POINTS
• The different distribution patterns of brain tumorous lesions can help differentiate among LCH, ECD, and RDD. • Vascular involvement was an exclusive imaging finding of ECD and was associated with high mortality. • Some cases with atypical imaging manifestations were reported to further expand the knowledge on these diseases.
Topics: Humans; Adult; Erdheim-Chester Disease; Retrospective Studies; Histiocytosis, Sinus; Histiocytosis, Langerhans-Cell; Neuroimaging; Brain; Hematologic Neoplasms; Edema
PubMed: 37191919
DOI: 10.1007/s00330-023-09724-8 -
Ear, Nose, & Throat Journal May 2022Langerhans Cell Histiocytosis is a rare disorder characterized by an abnormal proliferation of Langerhans cells in one or multiple organs. It rarely presents with a...
Langerhans Cell Histiocytosis is a rare disorder characterized by an abnormal proliferation of Langerhans cells in one or multiple organs. It rarely presents with a central vestibular involvement. We report a case of a multisystem Langerhans Cell Histiocytosis with mucosal, hepatic, and neurological involvement, presenting with dizziness and balance disorders. A 39-year-old woman with a histopathologically confirmed mucosal palatal Langerhans Cell Histiocytosis presented with a history of dizziness for a year. Vestibular examination revealed a saccadic eyes pursuit, an up beating spontaneous nystagmus, a bilateral gaze nystagmus and a prolonged positional nystagmus, in the supine roll test. Pure tone audiometry showed a slight left sensorineural hearing loss at the 8000 Hz frequency. Computed tomography (CT) scan showed a bilateral maxillary sinus fullness and a peripheral osteosclerosis of the surrounding bony walls. Hepatic magnetic resonance imaging (MRI) showed a typical hepatic involvement with a hepatomegaly with countless cysts. Temporal bone CT scan and MRI were normal. Cerebral MRI showed an hyperintense nodular signal at T2 FLAIR weighted images lateral to the right pons, at the level of the left middle cerebellar peduncle and at the left mesencephalon. Balance disorders can rarely present a sign of a degenerative neurological cerebellar involvement. Such a rare manifestation can present in different neurological disorders such as Langerhans' cell Histiocytosis.
PubMed: 35638545
DOI: 10.1177/01455613221106220 -
Iranian Journal of Otorhinolaryngology Jul 2023Multifocal Langerhans' cell histocytosis is a rare condition that can affect multiple organs and manifest in various scenarios. While the condition is more commonly...
INTRODUCTION
Multifocal Langerhans' cell histocytosis is a rare condition that can affect multiple organs and manifest in various scenarios. While the condition is more commonly found in children, it can also occur in adults.
CASE REPORT
A 43-year-old female presented with refractory otorrhea and had a rubbery neck mass in the left mid-cervical area, as well as an itchy eczematoid lesion in the left parietal area. The otic lesion was eventually resected, and histopathologic examination confirmed the diagnosis of Langerhans histiocytosis.
CONCLUSIONS
Although rare in adults, Langerhans histiocytosis should be considered as one of the differential diagnoses for ear canal polyps. If diagnosed, medical treatment should be pursued.
PubMed: 37497157
DOI: 10.22038/IJORL.2023.65286.3238