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Orphanet Journal of Rare Diseases Oct 2020Rosai-Dorfman disease (RDD) and IgG4-related (IgG4-RD) disease are both rare diseases, but in some cases, RDD mimics IgG4-RD clinically and pathologically. RDD mimicking...
BACKGROUND
Rosai-Dorfman disease (RDD) and IgG4-related (IgG4-RD) disease are both rare diseases, but in some cases, RDD mimics IgG4-RD clinically and pathologically. RDD mimicking IgG4-RDs (RDD mimic IgG4-RD), referring to disease initially diagnosed as IgG4-RD but finally pathologically confirmed to be RDD, is a clinically rare and confusing disease. To summarize the characteristics of this disease, we prospectively analyzed the clinical features, laboratory parameters, pathological characteristics, treatment and prognosis of patients diagnosed with RDD mimic IgG4-RD. Moreover, by analyzing characteristics of RDD mimic IgG4-RD, RDD and IgG4-RD, we further compared the similarities and differences between RDD and IgG4-RD.
RESULTS
7 patients with RDD mimic IgG4-RD were included in this study and all of them had extranodal organ involvement, especially the central nervous system, which occurred in 5 patients (71.4%). Although serum IgG4 level was elevated in 6 cases (1360-54,100 mg/L), overall, it was still lower than that in IgG4-RD patients. Furthermore, we found a new cut-off value of serum IgG4 concentration for differentiating RDD and IgG4-RD with higher specificity. Pathological findings of RDD also showed features resembling IgG4-RD: IgG4-positive plasma cell enrichments were observed in all RDD mimic IgG4-RD patients, and the proportion of IgG4/IgG in tissues was 10-40% in 4 patients and more than 40% in 2 patients. However, none of the RDD mimic IgG4-RD patients or RDD patients displayed obliterative phlebitis or storiform fibrosis. Most of the RDD mimic IgG4-RD patients were treated with glucocorticoids combined with immunosuppressants, and a good prognosis was obtained following treatment.
CONCLUSIONS
RDD has clinical manifestations that mimic IgG4-RD. However, detailed differences in laboratory parameters and pathological characteristics are present between these two diseases. Our study underlines the necessity to rule out RDD while diagnosing IgG4-RD using pathological findings as the identification criteria and provides advice for both differentiating these two diseases and clinical treatment of RDD mimic IgG4-RD.
Topics: Autoimmune Diseases; China; Diagnosis, Differential; Fibrosis; Histiocytosis, Sinus; Humans; Immunoglobulin G; Immunoglobulin G4-Related Disease
PubMed: 33054782
DOI: 10.1186/s13023-020-01567-6 -
Journal of Korean Medical Science Aug 2009Sinus histiocytosis with massive lymphadenopathy (SHML) is a rare disorder characterized by a nonneoplastic proliferation of distinctive histiocyte cells within lymph...
Sinus histiocytosis with massive lymphadenopathy (SHML) is a rare disorder characterized by a nonneoplastic proliferation of distinctive histiocyte cells within lymph node sinuses and lymphatics in extranodal sites. SHML occurs worldwide and is primarily a disease of childhood and early adulthood. A 26-yr-old man presented with painless palpable lymph node in cervical area. Radiographic studies revealed pleural effusion with lymphadenopathy and calcification in mediastinum. The cervical lymph node biopsy showed dilated sinuses filled with histiocytes with clear cytoplasm. The cells stained positive with CD68 and S-100. These cytologic and immunohistochemical findings were considered consistent with the diagnosis of SHML.
Topics: Adult; Antigens, CD; Antigens, Differentiation, Myelomonocytic; Histiocytes; Histiocytosis, Sinus; Humans; Lymph Nodes; Male; Neck; Pleural Effusion; S100 Proteins; Tomography, X-Ray Computed
PubMed: 19654967
DOI: 10.3346/jkms.2009.24.4.760 -
Medicine Oct 2023Rosai-Dorfman disease is a benign lymphatic tissue proliferative disease with slow growth and is rarely observed in the clinic. Most of these patients present clinically... (Review)
Review
BACKGROUND
Rosai-Dorfman disease is a benign lymphatic tissue proliferative disease with slow growth and is rarely observed in the clinic. Most of these patients present clinically with enlarged lymph nodes. In patients with spinal extranodal Rosai-Dorfman disease, which is even rare than the disease of lymph nodes, patients may experience numbness and weakness in the extremities.
CASE PRESENTATION
We report a 32-year-old male patient with multi-segmental spinal Rosai-Dorfman disease. On admission, his left fingers had been numb for 2 months. Over a 2-month period, the limb numbness progressed from the left to the right hand. The patient underwent resection of the lesion and internal fixation of the C2-C7 spine. The postoperative outcomes were satisfied and no recurrence was observed at 1-year follow-up.
CONCLUSION
Spinal Rosai-Dorfman disease is a relatively rare tumor of which the pathogenesis is still unclear, and most patients have no specific clinical manifestations. Characteristic imaging findings can indicate this disease, however, a definitive diagnosis still depends on a pathological examination. Currently, total surgical resection of the tumor is a relatively effective and preferred treatment.
Topics: Male; Humans; Adult; Histiocytosis, Sinus; Hypesthesia; Lymphadenopathy; Cervical Vertebrae; Neoplasms
PubMed: 37904362
DOI: 10.1097/MD.0000000000035654 -
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 -
Journal of Medical Case Reports Mar 2024Rosai-Dorfman disease (RDD) is a form of non-Langerhans cell histiocytosis in which the activated histiocytes of the lymph nodes and other organs begin to accumulate...
BACKGROUND
Rosai-Dorfman disease (RDD) is a form of non-Langerhans cell histiocytosis in which the activated histiocytes of the lymph nodes and other organs begin to accumulate following excessive production. Bilateral, massive, and painless lymphadenopathy are classic presentations. Systemic RDD is already known to be a rare condition, but isolated cutaneous RDD is extremely rare. We presented a rare and unusual presentations of a disease.
CASE PRESENTATION
A 35-year-old Thai female with a 6-month history of a small acne-like lesion that rapidly progressed to 5 cm tumor-like lesions on the face within 3 months. Tissue histology showed a dense dermal infiltration of histiocytes with emperipolesis phenomenon. Immunohistochemistry was positive for S100 protein and CD68 and negative for CD1a. Oral prednisolone (50 mg/day) was initiated with a favorable outcome at the one-month follow-up. However, prednisolone yielded a partial response at 2-month follow-up, leading to application of another modality.
CONCLUSION
Although cutaneous Rosai-Dorfman disease is considered benign and well medical responded disease, patients with atypical presentation and rapid growing lesion may necessitate aggressive multimodal treatment.
Topics: Humans; Female; Adult; Histiocytosis, Sinus; Skin Diseases; Histiocytes; Lymphadenopathy; Prednisolone
PubMed: 38532442
DOI: 10.1186/s13256-024-04410-9 -
Archives of Disease in Childhood Apr 1992Sinus histiocytosis with massive lymphadenopathy is a well recognised, but rare cause of lymphadenopathy in the first decade of life. Three cases presenting with nodal...
Sinus histiocytosis with massive lymphadenopathy is a well recognised, but rare cause of lymphadenopathy in the first decade of life. Three cases presenting with nodal disease are described. The eyelids were involved in one case. The clinical, laboratory, and biopsy findings are discussed and compared with previously reported cases.
Topics: Child; Child, Preschool; Eyelid Diseases; Female; Histiocytosis, Sinus; Humans; Infant; Lymphatic Diseases; Male; Platelet Count; Thrombocytosis
PubMed: 1580684
DOI: 10.1136/adc.67.4.521 -
Modern Pathology : An Official Journal... May 2019In 2008, we presented three cases of ALK-positive histiocytosis as a novel systemic histiocytic proliferation of early infancy with hepatosplenomegaly and dramatic...
In 2008, we presented three cases of ALK-positive histiocytosis as a novel systemic histiocytic proliferation of early infancy with hepatosplenomegaly and dramatic hematological disturbances. This series of 10 cases (including the original three cases) describes an expanded clinicopathological spectrum and the molecular findings of this histiocytic proliferation. Six patients had disseminated disease: five presented in early infancy with eventual disease resolution, and the sixth presented at 2 years of age and died of intestinal, bone marrow, and brain involvement. The other four patients had localized disease involving nasal skin, foot, breast, and intracranial cavernous sinus - the first three had no recurrence after surgical resection, while the cavernous sinus lesion showed complete resolution with crizotinib therapy. The lesional histiocytes were very large, with irregularly folded nuclei, fine chromatin, and abundant eosinophilic cytoplasm, sometimes with emperipolesis. There could be an increase in foamy histiocytes and Touton giant cells with time, resembling juvenile xanthogranuloma. Immunostaining showed that the histiocytes were positive for ALK, histiocytic markers (CD68, CD163) and variably S100, while being negative for CD1a, CD207, and BRAF-V600E. Next-generation sequencing-based anchored multiplex PCR (Archer® FusionPlex®) performed in six cases identified KIF5B-ALK gene fusion in five and COL1A2-ALK fusion in one. There was no correlation of gene fusion type with disease localization or dissemination. The clinicopathological spectrum of ALK-positive histiocytosis is broader than originally described, and this entity is characterized by frequent presence of KIF5B-ALK gene fusion. We recommend that every unusual histiocytic proliferative disorder, especially disseminated lesions, be tested for ALK expression because of the potential efficacy of ALK inhibitor therapy in unresectable or disseminated disease.
Topics: Adolescent; Adult; Cell Proliferation; Child, Preschool; Crizotinib; Female; Gene Fusion; Genetic Predisposition to Disease; Histiocytes; Histiocytosis; Hong Kong; Humans; Infant; Infant, Newborn; Male; Oncogene Proteins, Fusion; Phenotype; Protein Kinase Inhibitors; Singapore; Treatment Outcome; Victoria
PubMed: 30573850
DOI: 10.1038/s41379-018-0168-6 -
Neurology India 2011
Topics: Diagnosis, Differential; Histiocytosis, Sinus; Humans; Magnetic Resonance Imaging; Nervous System Diseases; Tomography, X-Ray Computed
PubMed: 21743156
DOI: 10.4103/0028-3886.82705 -
Actas Dermo-sifiliograficas Jun 2017
Topics: Adult; Facial Dermatoses; Histiocytosis, Sinus; Humans; Immunosuppressive Agents; Lymphocytes; Male; Methotrexate
PubMed: 28109522
DOI: 10.1016/j.ad.2016.10.018 -
CytoJournal Feb 2011Rosai-Dorfman disease (RDD), a rare, benign, self-limiting histiocytic proliferative disorder, can be encountered in both nodal and extranodal locations, and fine needle...
Rosai-Dorfman disease (RDD), a rare, benign, self-limiting histiocytic proliferative disorder, can be encountered in both nodal and extranodal locations, and fine needle aspiration (FNA), a simple, accurate and economic tool, has been widely used for the diagnosis of superficial and deep-seated lesions. Familiarity with the cytomorphologic features of RDD is important as prognosis and treatment are quite different from other benign or malignant diseases for which it may clinically masquerade. Although large numbers of RDD cases have been reported, review of the literature has revealed 49 reported cases of RDD diagnosed by FNA. Here, we report a case of RDD with nasal and sinus involvement. The patient was seen at our institution, carrying a diagnosis of inflammatory pseudotumor rendered by an outside institution, based on material obtained by nasal and sinus surgical biopsies. Cervical lymph node FNA performed at our institution revealed typical features of RDD. The case, as well as a brief review of the literature and 49 RDD cases with FNA cytology, will be discussed.
PubMed: 21383958
DOI: 10.4103/1742-6413.76731