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Discovery Medicine Nov 2013Recently, we described a case of generalized pure cutaneous Rosai-Dorfman disease in a 43-year-old Asian man in JAMA. The lesions distributed on nearly all of the skin... (Review)
Review
Recently, we described a case of generalized pure cutaneous Rosai-Dorfman disease in a 43-year-old Asian man in JAMA. The lesions distributed on nearly all of the skin of the whole body, except for mucous sites. Molecular, immunophenotypic, and sequencing analyses seem to define it as a histiocytic-mesenchymal transition and intermediate proliferative histiocytosis not associated with mtDNA large deletion and pathogenic mutation, as well as the SLC29A3 gene mutation.
Topics: DNA, Mitochondrial; Histiocytosis, Sinus; Humans; Immunohistochemistry; Inflammation; Mutation; Neoplasms; Nucleoside Transport Proteins; Polymerase Chain Reaction
PubMed: 24229736
DOI: No ID Found -
Frontiers in Medicine 2022Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is known to cause immune dysregulation and, therefore, has...
Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is known to cause immune dysregulation and, therefore, has varied and often rare presentations. Rosai-Dorfman-Destombes disease (RDD) is an unusual non-Langerhans cell (non-LC) histiocytosis presenting with massive lymphadenopathy and various systemic symptoms. A 55-year-old Asian-American woman with no significant medical history or recent use of new drugs initially presented with cervical lymphadenopathy and urticarial rash 1 week after receiving the COVID-19 messenger RNA (mRNA) vaccine (Moderna, mRNA-1273) against SARS-CoV-2. The biopsy of the skin rash was consistent with a drug reaction. Approximately 2 months later, she developed mild flu-like symptoms and was diagnosed with a COVID-19 infection. Her symptoms were mild and self-resolving. Approximately 3 months later, she developed a generalized patchy erythematous rash on the face and the body that gradually worsened; diffuse lymphadenopathy involving the bilateral cervical, axillary, and inguinal areas; and constitutional symptoms. Laboratory results were consistent with lymphopenia, anemia, and an elevated sedimentation rate. Supraclavicular lymph node biopsy showed Rosai-Dorfman disease with a marked polyclonal plasmacytosis. She was started on a tapering dose of corticosteroids and showed clinical improvements over the next few weeks. Herein, we present a rare case of a histiocytic disorder that developed after contracting the SARS-COV2 infection in the event of receiving a recent mRNA COVID vaccination.
PubMed: 36600887
DOI: 10.3389/fmed.2022.1073767 -
International Journal of Surgery Case... 2015Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare histiocytic disorder of unclear etiology. Lymphadenopathy commonly...
INTRODUCTION
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare histiocytic disorder of unclear etiology. Lymphadenopathy commonly affects the lymph nodes of the neck and the head, but extranodal involvement has been observed too.
PRESENTATION OF CASE
We describe an unusual case of RDD with involvement of the gallbladder, liver and cystic lymph node, clinically manifested as an exacerbated cholecystitis. The patient underwent a cholecystectomy with atypical liver resection because the finding was macroscopically suspected of gallbladder cancer. The diagnosis of RDD was confirmed by immunohistochemical study.
DISCUSSION
Histological features of RDD include histiocytic proliferation, emperipolesis and positive immunostaining for S-100 protein and typically negative for CD1a. Gastrointestinal localization of RDD, especially in the liver and pancreas, is extremely rare. Typically, the liver is affected as a part of systematic spread of RDD. We have not found reports for involvement of the gallbladder.
CONCLUSION
The presented case is valuable due to its rarity and difficulty in differential diagnosis.
PubMed: 26073916
DOI: 10.1016/j.ijscr.2015.06.001 -
International Archives of... Oct 2014Introduction Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph...
Introduction Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph node enlargement. Histologically, it shows proliferation of distinctive histiocytic cells that demonstrate emperipolesis in the background of a mixed inflammatory infiltrates. Immunohistochemically, the cells are positive for markers such as CD68 and S100. Objective To report a case of a 12-year-old patient with multiple sites of cervical lymphadenitis, which was diagnosed as RDD histopathologically as well as immunohistologically. Resumed Report A 12-year-old girl presented with multiple painless sites of cervical lymphadenitis without any systemic and other ear, nose, and throat manifestations. The biopsy report of the lymph node showed dilatation of the sinuses, filled with histiocytes having foamy cytoplasm. Many of the histiocytes were engulfing mature lymphocytes. The sinus histiocytes were strongly positive for S-100 protein. Conclusion RDD must be considered in the differential diagnosis of massive or multiple lymphadenopathies.
PubMed: 25992132
DOI: 10.1055/s-0034-1387163 -
The Journal of Clinical Endocrinology... Oct 2001A 40-yr-old female presented with an extensive lesion of the sellar area and the sphenoid sinus, spreading to the optic nerves and associated with pachymeningitis....
A 40-yr-old female presented with an extensive lesion of the sellar area and the sphenoid sinus, spreading to the optic nerves and associated with pachymeningitis. Histological findings were consistent with an inflammatory pseudotumor, and steroid treatment allowed the disappearance of all the lesions. Inflammatory pseudotumors of the pituitary are very rare. This case appears unique with regard to the extension of the lesions and the dramatic response to medical treatment. The differential diagnosis of inflammatory lesions of the pituitary is difficult. It relies mainly on histological analysis and includes sarcoidosis, Wegener's granulomatosis, histiocytosis (Langerhans, Rosai-Dorfman, and Erdheim-Chester diseases) and lymphocytic hypophysitis.
Topics: Adrenal Cortex Hormones; Adult; Female; Granuloma, Plasma Cell; Humans; Immunohistochemistry; Pituitary Diseases
PubMed: 11600510
DOI: 10.1210/jcem.86.10.7954 -
Intractable & Rare Diseases Research May 2022Rosai-Dorfman disease (RDD) is also called sinus histiocytosis with massive lymphadenopathy, and it is caused by a histiocytic disorder with unclear etiology. It usually...
Rosai-Dorfman disease (RDD) is also called sinus histiocytosis with massive lymphadenopathy, and it is caused by a histiocytic disorder with unclear etiology. It usually involves cervical lymph nodes, but it may also present with extranodal involvement. We report a rare condition of isolated hepatic RDD without nodal involvement, clinically manifested with three-month abdominal pain and tenderness of the right hypochondrium. CT- and PET-CT scans were compatible with a secondary lesion from an unknown primary tumor. Therefore, the patient underwent an atypical liver resection. Immunohistochemistry and histological results were compatible with a diagnosis of RDD. RDD is characterized by phenomena of emperipolesis, histiocytic proliferation and positive immunostaining for CD14, CD68 and S-100 protein. Cases of isolated gastrointestinal localization of RDD are particularly rare, especially in the liver. Instrumental exams might confuse RDD with other malignancies. RDD is a rare entity, which might be misdiagnosed using PET-CT due to its similarities with malignant tumors. An accurate multidisciplinary approach may help to clear diagnostic clues of this uncommon disease.
PubMed: 35702580
DOI: 10.5582/irdr.2022.01037 -
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 -
The Journal of International Medical... 2011Rosai-Dorfman disease is a well-established autoimmune histioproliferative disorder, and solitary central nervous system involvement is rare. A 35-year-old man presented... (Review)
Review
Rosai-Dorfman disease is a well-established autoimmune histioproliferative disorder, and solitary central nervous system involvement is rare. A 35-year-old man presented with headache and transient blurred vision of 4 months' duration and weakness of the left extremities for 1 month. He had left temporal hemianopsia, a right nasal visual field defect of the upper medial quadrant and decreased muscle strength of the left extremities. Magnetic resonance imaging (MRI) showed a contrastenhancing tentorium-based lesion in the right trigone, intruding into the right lateral ventricle. The lesion was totally resected. Rosai-Dorfman disease was confirmed pathologically by an inflammatory infiltrate in the absence of an infectious agent, emperipolesis and positive S100 staining. From a review of the literature on Rosai-Dorfman disease in the central nervous system it is concluded that follow-up MRI should be performed in order to detect possible recurrence and that this rare entity should be considered in the differential diagnosis of intracranial lesions.
Topics: Adult; Brain Diseases; Histiocytosis, Sinus; Humans; Male; Radiography; Radionuclide Imaging
PubMed: 22118011
DOI: 10.1177/147323001103900553 -
Archives of Pathology & Laboratory... Mar 2011Sinus histiocytosis with massive lymphadenopathy (SHML), also known as Rosai-Dorfman disease, is a rare self-limiting disorder of histiocytes with unknown etiology....
Sinus histiocytosis with massive lymphadenopathy (SHML), also known as Rosai-Dorfman disease, is a rare self-limiting disorder of histiocytes with unknown etiology. Sinus histiocytosis with massive lymphadenopathy is most common in children and young adults and is characterized by painless lymphadenopathy. Histologically there is a proliferation of sinus histiocytes with lymphophagocytosis or emperipolesis. On rare occasions, SHML has been associated with lymphoma, usually involving different anatomic sites and developing at different times. We report a case of concomitant SHML and nodal marginal zone lymphoma involving the same lymph node without involvement of other nodal or extranodal sites. The presence of concomitant SHML within the lymph node involved by nodal marginal zone lymphoma may represent the responsiveness of SHML histiocytes to B-cell-derived cytokines in lymphoproliferative disorders. To our knowledge, this is the first description of concomitant occurrence of SHML and nodal marginal zone lymphoma.
Topics: Aged; Female; Histiocytosis, Sinus; Humans; Lymph Nodes; Lymphoma, B-Cell, Marginal Zone; Treatment Outcome
PubMed: 21366466
DOI: 10.5858/2010-0114-CR.1 -
A case report of epileptic seizures caused by Rosai Dorfman disease followed by a literature review.Medicine Dec 2022Rosai Dorfman disease is a rare benign histiocytoproliferative disorder that occurs in the intracranial area, which occurrs typically in lymph nodes. Extrapnodal Rosai... (Review)
Review
RATIONALE
Rosai Dorfman disease is a rare benign histiocytoproliferative disorder that occurs in the intracranial area, which occurrs typically in lymph nodes. Extrapnodal Rosai Dorfman disease rarely develops in the central nervous system and is often a focal lesion based on the dura. Based on imaging and clinical symptoms, RDD may be misdiagnosed as meningioma, and some lesions can also occur in the brain parenchyma. In the case of benign disease, the final diagnosis is made by pathological tissue diagnosis. For chronic diseases, progression may be chronic or remitting and relapsing.
PATIENT CONCERNS
A 54-years-old man was hospitalized after experiencing paroxic convulsions and being unconsciousness. A head magnetic resonance imaging demonstrates a strip of lesions in the right parietal lobe. No obvious abnormality is found in the laboratory data.
DIAGNOSES
We diagnosed meningioma of right parietal lobe and secondary epilepsy, and prescribed oral sodium valproate to treat him.
INTERVENTIONS
The lesion is located in the right parietal lobe on neuroimaging prior to surgery, which was taken for immunohistochemical examination.
OUTCOMES
If it is found that immunohistochemistry reveals histiocytes are positive for CD68, S-100, but negative for CD1a, it is identified as RDD. For patients who are seizure-free following surgery, symptomatic management is used. Following parietal lesion resection, patients are seizure-free during the follow-up period (44 months).
LESSONS
Basing on studying and summarizing relevant literatures, RDD is described in the report in terms of its diagnosis, pathology, treatment, and clinical outcome, in order to improve the diagnosis and identification of intracranial RDD by physicians.
Topics: Humans; Male; Middle Aged; Histiocytosis, Sinus; Meningioma; Diagnosis, Differential; Epilepsy; Seizures; Meningeal Neoplasms
PubMed: 36596083
DOI: 10.1097/MD.0000000000032553