-
Successful anesthesia management with inhalation anesthesia in Rosai-Dorfman disease: a case report.The Journal of International Medical... Aug 2023Rosai-Dorfman disease (RDD) is a rare, benign, non-Langerhans cell histiocytic proliferative disease. RDD with central nervous system involvement is extremely rare....
Rosai-Dorfman disease (RDD) is a rare, benign, non-Langerhans cell histiocytic proliferative disease. RDD with central nervous system involvement is extremely rare. Surgical excision is generally regarded as the appropriate treatment of choice for this disease, especially when the lesion causes neurological compression. RDD can be accompanied by systemic symptoms, such as malaise, fever, weight change, leukocytosis, anemia, and hormonal disturbance, which may be challenging during general management. Little is known regarding peri-anesthesia management of this rare disease. We report a case of a patient in his 20s who had recurrent RDD and had general anesthesia with perioperative management. He was obese and hepatic insufficiency. This case report adds to the literature regarding the perioperative anesthetic management of RDD with central nervous system involvement.
Topics: Anesthesia, Inhalation; Histiocytosis, Sinus; Humans; Male; Young Adult; Perioperative Care; Obesity; Hepatic Insufficiency; Craniotomy; Central Nervous System Diseases
PubMed: 37647362
DOI: 10.1177/03000605231195161 -
CNS Oncology Dec 2023Rosai-Dorfman disease (RDD) is a rare, S100-positive histiocytic proliferation, that can cause both nodal and extranodal illness. We present a case of a 53-year-old male...
Rosai-Dorfman disease (RDD) is a rare, S100-positive histiocytic proliferation, that can cause both nodal and extranodal illness. We present a case of a 53-year-old male patient. Magnetic resonance imaging described a plaque-like meningeal lesion, and the preoperative diagnosis was meningioma. Histologically, dense infiltration of lymphocytes, plasma cells, and histiocytes was seen, furthermore, the presence of emperipolesis in the sample was pronounced. In the histiocytes nuclear and cytoplasmic positivity with S100 protein, and nuclear positivity with Cyclin D1 was observed. The case was concluded as RDD. Morphological appearance of intracranial RDD with imaging procedures can present a differential diagnostic challenge. The correct diagnosis is based on the presence of histiocytes with emperipolesis, and properly defined immunohistochemical characteristics.
Topics: Male; Humans; Middle Aged; Histiocytosis, Sinus; Histiocytes; Emperipolesis; Meningioma; S100 Proteins; Diagnosis, Differential; Meningeal Neoplasms
PubMed: 37551608
DOI: 10.2217/cns-2023-0006 -
Asian Journal of Surgery Nov 2023
Topics: Humans; Histiocytosis, Sinus; Diagnosis, Differential
PubMed: 37479651
DOI: 10.1016/j.asjsur.2023.07.046 -
Asian Journal of Surgery Nov 2023
Topics: Humans; Histiocytosis, Sinus; Exome Sequencing; Mutation; Interferon Regulatory Factors
PubMed: 37422400
DOI: 10.1016/j.asjsur.2023.06.071 -
Revista Espanola de Enfermedades... Jun 2024We present a case of Rosai-Dorfman disease (RDD) occurred in a 6-year-old male child, characterized by extensive involvement of the esophagus. Eight months ago, the...
We present a case of Rosai-Dorfman disease (RDD) occurred in a 6-year-old male child, characterized by extensive involvement of the esophagus. Eight months ago, the child presented with persistent fever and a diffuse dark red rash. MRI revealed a mass occupying the left nasal cavity and septal sinus and biopsy pathology confirmed the diagnosis of RDD. Following dexamethasone and prednisone treatment, the child experienced dysphagia. 18F-FDG PET/CT revealed multiple lesions with increased metabolism in the left nasal sinus, lymph nodes, widespread skin lesions, and the entire esophagus. Subsequent biopsies of lymph nodes, abdominal skin, and esophageal lesions was consistent with RDD involvement. The child is presently undergoing six cycles of VCR+Ara-c+Dex chemotherapy and the treatment is going well.
Topics: Humans; Histiocytosis, Sinus; Male; Child; Esophageal Diseases; Esophagus; Positron Emission Tomography Computed Tomography
PubMed: 37350657
DOI: 10.17235/reed.2023.9753/2023 -
Internal Medicine (Tokyo, Japan) Feb 2024
Topics: Humans; Histiocytosis, Sinus; Pain; Knee Joint; Arthralgia
PubMed: 37344424
DOI: 10.2169/internalmedicine.2097-23 -
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 -
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 -
Blood Advances Aug 2023Erdheim-Chester disease (ECD) and Rosai-Dorfman disease (RDD) are rare non-Langerhans cell histiocytoses (non-LCHs), for which therapeutic options are limited. MAPK...
Erdheim-Chester disease (ECD) and Rosai-Dorfman disease (RDD) are rare non-Langerhans cell histiocytoses (non-LCHs), for which therapeutic options are limited. MAPK pathway activation through BRAFV600E mutation or other genomic alterations is a histiocytosis hallmark and correlates with a favorable response to BRAF inhibitors and the MEK inhibitor cobimetinib. However, there has been no systematic evaluation of alternative MEK inhibitors. To assess the efficacy and safety of the MEK inhibitor trametinib, we retrospectively analyzed the outcomes of 26 adult patients (17 with ECD, 5 with ECD/RDD, 3 with RDD, and 1 with ECD/LCH) treated with orally administered trametinib at 4 major US care centers. The most common treatment-related toxicity was rash (27% of patients). In most patients, the disease was effectively managed at low doses (0.5-1.0 mg trametinib daily). The response rate of the 17 evaluable patients was 71% (73% [8/11] without a detectable BRAFV600E achieving response). At a median follow-up of 23 months, treatment effects were durable, with a median time-to-treatment failure of 37 months, whereas the median progression-free and overall survival were not reached (at 3 years, 90.1% of patients were alive). Most patients harbored mutations in BRAF (either classic BRAFV600E or other BRAF alterations) or alterations in other genes involved in the MAPK pathway, eg, MAP2K, NF1, GNAS, or RAS. Most patients required lower than standard doses of trametinib but were responsive to lower doses. Our data suggest that the MEK inhibitor trametinib is an effective treatment for ECD and RDD, including those without the BRAFV600E mutation.
Topics: Adult; Humans; Proto-Oncogene Proteins B-raf; Retrospective Studies; Erdheim-Chester Disease; Histiocytosis, Sinus; Protein Kinase Inhibitors; Mitogen-Activated Protein Kinase Kinases
PubMed: 36857436
DOI: 10.1182/bloodadvances.2022009013 -
Ear, Nose, & Throat Journal Jul 2024Rosai-Dorfman disease (RDD) is a rare non-malignant disorder, characterized by painless multiple cervical lymphadenopathy, fever, and elevated inflammatory markers. Its...
Rosai-Dorfman disease (RDD) is a rare non-malignant disorder, characterized by painless multiple cervical lymphadenopathy, fever, and elevated inflammatory markers. Its diagnosis is difficult due to its rare incidence and various clinical presentations, especially in extranodal involvement. In this report, we demonstrate a patient with RDD who presented with a nasal septum and laryngeal tumor that caused dyspnea. We achieved a successful treatment outcome with combined surgical resection of the laryngeal mass and corticosteroid medication. The symptoms and tumors were resolved within 3 weeks after treatment. We reported our experiences with review of literatures.
Topics: Humans; Histiocytosis, Sinus; Male; Nasal Cavity; Laryngeal Diseases; Nasal Septum; Middle Aged; Medical Illustration; Female; Nose Diseases
PubMed: 34841915
DOI: 10.1177/01455613211054632