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Internal Medicine (Tokyo, Japan) Feb 2024
Topics: Humans; Histiocytosis, Sinus; Pain; Knee Joint; Arthralgia
PubMed: 37344424
DOI: 10.2169/internalmedicine.2097-23 -
Journal of Medical Case Reports Jun 2023Rosai-Dorfman disease is a rare benign histiocytic disorder characterized in most cases by painless cervical adenopathy. Less than 10% of extranodal cases involve bony...
BACKGROUND
Rosai-Dorfman disease is a rare benign histiocytic disorder characterized in most cases by painless cervical adenopathy. Less than 10% of extranodal cases involve bony lesions. Primary bone Rosai-Dorfman disease in the absence of nodal disease is extremely rare.
CASE PRESENTATION
A 48 year-old Caucasian male presented with progressive right-sided otalgia, tinnitus, vertigo, and hearing loss. A right temporal bone lytic lesion was detected on diagnostic imaging. Resection of the lesion and histopathological examination revealed Rosai-Dorfman disease.
CONCLUSIONS
Rosai-Dorfman disease primary bone lesions are an atypical presentation of a rare disease. This is the second reported case of Rosai-Dorfman disease arising within the temporal bone. This case study reveals that Rosai-Dorfman disease should be considered for patients presenting with inflammatory/lytic lesions of the temporal bone, in cases where infection and malignancy have been excluded.
Topics: Humans; Male; Middle Aged; Histiocytosis, Sinus; Lymphadenopathy
PubMed: 37340304
DOI: 10.1186/s13256-023-03790-8 -
Anais Brasileiros de Dermatologia 2023The authors investigated the expression of IgG4 and IgG in cutaneous Rosai-Dorfman Disease (CRDD) to further improve the understanding of this disease.
OBJECTIVE
The authors investigated the expression of IgG4 and IgG in cutaneous Rosai-Dorfman Disease (CRDD) to further improve the understanding of this disease.
METHODS
The authors retrospectively reviewed the clinicopathological features of 23 CRDD patients. The authors diagnosed CRDD by the presence of emperipolesis and immunohistochemical (IHC) staining of histiocytes consisting of S-100(+)/CD68(+)/CD1a(-) cells. The expressions of IgG and IgG4 in cutaneous specimens were assessed by IHC (EnVision) and quantitatively calculated by a medical image analysis system.
RESULTS
All 23 patients, including 14 males and 9 females, were confirmed to have CRDD. Their ages ranged from 17 to 68 years (mean 47.91 ± 14.16). The most frequently affected skin regions were the face, followed by the trunk, ears, neck, limbs, and genitals. In 16 of these cases, the disease presented as a single lesion. IHC staining of sections showed that IgG was positive (≥ 10 cells/High-Power Field [HPF]) in 22 cases, while IgG4 was positive (≥ 10 cells/HPF) in 18 cases. Moreover, the IgG4/IgG proportion ranged from 1.7% to 85.7% (mean 29.50 ± 24.67%, median 18.4%) in the 18 cases.
STUDY LIMITATIONS
In the majority of studies, as well as in the current study, the design. RDD is a rare disease, so the sample size is small. In the next studies to come, the authors will expand the sample for multi-center verification and in-depth study.
CONCLUSION
The positive rates of IgG4 and IgG and the IgG4/IgG ratio assessed through IHC staining may be important in understanding the pathogenesis of CRDD.
Topics: Male; Female; Humans; Adolescent; Young Adult; Adult; Middle Aged; Aged; Histiocytosis, Sinus; Immunoglobulin G; Retrospective Studies; Skin Diseases; Histiocytes; S100 Proteins
PubMed: 37301673
DOI: 10.1016/j.abd.2022.07.010 -
Pathology, Research and Practice Jul 2023Rosai-Dorfman disease (RDD), a rare form of non-Langerhans cell histiocytosis with heterogenous clinical features, arises from precursor cells that give rise to cells of... (Review)
Review
BACKGROUND
Rosai-Dorfman disease (RDD), a rare form of non-Langerhans cell histiocytosis with heterogenous clinical features, arises from precursor cells that give rise to cells of the histiocytic and monocytic lineages. An association with hematological neoplasms has been reported. Testicular RDD is rarely described, with only 9 reported cases in the literature. Genetic data to assess clonal relationships between RDD and other hematological neoplasms remain scarce. We describe an instance of testicular RDD against a background of chronic myelomonocytic leukemia (CMML), with genetic studies in both neoplasms.
CASE PRESENTATION
A 72-year-old patient with a history of CMML sought evaluation of growing bilateral testicular nodules. Solitary testicular lymphoma was suspected; orchidectomy was performed. The diagnosis of testicular RDD was established morphologically and confirmed immunohistochemically. Molecular analysis of testicular lesions and of archived patient bone marrow revealed the KRAS variant c 0.35 G>A / p.G12D in both, suggesting a clonal relationship.
CONCLUSION
These observations support classifying RDD as a neoplasm that can be clonally related to myeloid neoplasms.
Topics: Male; Humans; Adult; Aged; Histiocytosis, Sinus; Leukemia, Myelomonocytic, Chronic; Histiocytes; Lymphoma, Non-Hodgkin; Bone Marrow
PubMed: 37216748
DOI: 10.1016/j.prp.2023.154548 -
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 -
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 -
Radiology Case Reports Jun 2023Anaplastic lymphoma kinase (ALK)-positive histiocytosis is an uncommon condition, recently considered a separate condition from other histiocytosis by WHO 5th edition....
Anaplastic lymphoma kinase (ALK)-positive histiocytosis is an uncommon condition, recently considered a separate condition from other histiocytosis by WHO 5th edition. It can involve intracranial structures. This manuscript describes a case of ALK-positive histiocytosis of the cavernous sinus, focusing on the radiologic and pathologic presentation of the entity. Our case had MRI manifestations mimicking meningioma, metastasis, and Langerhans histiocytosis. On CT imaging, benign osseous remodeling of the cavernous sinus was detected, which can be helpful in differentiating it from more common meningioma.
PubMed: 37123042
DOI: 10.1016/j.radcr.2023.03.034 -
SAGE Open Medical Case Reports 2023The Rosai-Dorfman disease (RDD) is a kind of sinus histiocytosis with massive lymphadenopathy and is remarkably rare. RDD is characterized by large histiocytes with...
The Rosai-Dorfman disease (RDD) is a kind of sinus histiocytosis with massive lymphadenopathy and is remarkably rare. RDD is characterized by large histiocytes with emperipolesis. However, the cause of RDD is unknown, and most cases are relieved spontaneously. In rare cases, patients may have onset and remission of lymph nodes and extranodal involvement. This report showed an RDD case in a 67-year-old male patient with systemic superficial lymphadenopathy and high IgG4 plasma cell infiltration. We showed that a possible RDD diagnosis should be kept in mind when encountering a systemic multiple lymphadenopathy and high IgG4 plasma cell infiltration. Also, an overlap between RDD and IgG4-related disease might be present, which might help in clinical recognition of RDD.
PubMed: 37077805
DOI: 10.1177/2050313X231164864 -
Cureus Feb 2023Rosai-Dorfman Disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is an uncommon histiocytic condition characterized by massive...
Rosai-Dorfman Disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is an uncommon histiocytic condition characterized by massive histopathological aggregation of CD1-a negative, CD68-positive, and S100-positive histiocytes. It was initially described by Destombes in 1965 under the term "adenitis with lipid excess." However, it is named after Rosai and Dorfman who reported further histopathological features of the disease in 1969. The diagnosis of this non-Langerhans cell histiocytosis can be challenging and requires high clinical suspicion. The diagnostic process usually involves imaging, tissue biopsies, and genetic testing as needed. In this case series, we are presenting three cases of rare disease. Case 2 had both nodal and extranodal forms, which makes this case rarer than cases 1 and 3, which present with extranodal lesions.
PubMed: 36960255
DOI: 10.7759/cureus.35193 -
BMC Pulmonary Medicine Mar 2023Rosai-Dorfman disease (RDD) is a rare benign non-langerhans cell histiocytosis, mainly involving lymph nodes and skin. It is even rarer occurring only in central airway... (Review)
Review
BACKGROUND
Rosai-Dorfman disease (RDD) is a rare benign non-langerhans cell histiocytosis, mainly involving lymph nodes and skin. It is even rarer occurring only in central airway of lung and in diffuse form. Central airway RDD is similar to malignant tumor in imaging by radiological method and in bronchoscopy features. It is difficult to differentiate it from primary airway malignant tumor and to diagnose correctively in time.
CASE PRESENTATION
Here we present a rare case of 18-year-old male diagnosed with primary diffuse RDD in central airway. Although the features examined by enhanced chest computed tomography, positron emission tomography/computed tomography, diffusion-weighted imaging of enhanced chest MRI and bronchoscopy indicate to be malignant tumor, the patient was definitely confirmed by multiple transbronchial biopsies and immunohistochemistry. After two transbronchial resections, the patient's symptoms of paroxysmal cough, whistle sound and shortness of breath were significantly reduced, as well as the airway stenosis was significantly improved. After 5 months of follow-up, the patient had no symptoms and the central airway were unobstructed.
CONCLUSIONS
Primary diffuse RDD in central airway is characterized by intratracheal neoplasm, which is usually suspected as malignant tumor according to radiological image and bronchoscopy. Pathology and immunohistochemistry are necessary for definite diagnosis. Transbronchial resection is effective and safe for patients with primary diffuse RDD in central airway.
Topics: Male; Humans; Adolescent; Histiocytosis, Sinus; Thorax; Tomography, X-Ray Computed; Lung; Positron Emission Tomography Computed Tomography
PubMed: 36894897
DOI: 10.1186/s12890-023-02363-1