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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... Feb 2022Rosai-Dorfman disease is a rare, histiocytic lymphoproliferative disease of unknown etiology. It manifests mainly as painless cervical lymphadenopathy, with very few...
INTRODUCTION AND IMPORTANCE
Rosai-Dorfman disease is a rare, histiocytic lymphoproliferative disease of unknown etiology. It manifests mainly as painless cervical lymphadenopathy, with very few cases reported extranodal involvement in the central nervous system. Isolated spinal Rosai-Dorfman disease is sporadic.
CASE PRESENTATION
This case report documents a rare instance of an isolated long-segment spinal Rosai-Dorfman disease (C4-D6) along with the review of relevant literature. A 33-year male presented with progressive quadriparesis and urinary retention. A magnetic resonance scan (MRI) revealed a long segment epidural lesion from C4-D6 levels that led to the displacement of the cord. A core biopsy of the spinal tumor revealed characteristic histiocytic emperipolesis and confirmational immunocytohistochemistry markers, confirming the diagnosis. Surgical resection and laminoplasty were performed.
CLINICAL DISCUSSION
The following histopathology and immunocytohistochemistry findings showed the presence of histiocytes positive for S100 and CD68 positive. Therefore, it was diagnosed to be a case of Rosai-Dorfman disease. The patient had a smooth postoperative recovery and displayed marked motor improvement in the ensuing days. This is a rare case that posed an intriguing challenge to approach.
CONCLUSION
To our knowledge, we have encountered one of the most prolonged segmental lesions in isolated spinal Rosai-Dorfman diseases, where surgical management (surgical resection and laminoplasty) has proven to bring about remarkable improvement.
PubMed: 35131625
DOI: 10.1016/j.ijscr.2022.106775 -
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 -
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 -
Haematologica Nov 2022Erdheim-Chester disease (ECD) is a rare L-group histiocytosis. Orbital involvement is found in a third of cases, but few data are available concerning the radiological...
Erdheim-Chester disease (ECD) is a rare L-group histiocytosis. Orbital involvement is found in a third of cases, but few data are available concerning the radiological features of ECD-related orbital disease (ECD-ROD). Our aim was to characterize the initial radiological phenotype and outcome of patients with ECD-ROD. Initial and follow-up orbital magnetic resonance imaging (MRI) from the patients with histologically proven ECD at a national reference center were reviewed. Pathological orbital findings were recorded for 45 (33%) of the 137 patients included, with bilateral involvement in 38/45 (84%) cases. The mean age (± standard deviation) of these patients was 60 (±11.3) years and 78% were men. Intraconal fat infiltration around the optic nerve sheath adjacent to the eye globe (52%), with intense gadolinium uptake and a fibrous component was the most frequent phenotype described. Optic nerve signal abnormalities were observed in 47% of cases. Two patients had bilateral homogeneous extraocular muscle enlargement suggestive of a myositis-like involvement of ECD-ROD. None had isolated dacryoadenitis but in 17 eyes dacryodenitis was described in association with other types of orbital lesions. Only seven patients (15%) had normal brain MRI findings. ECD-associated paranasal sinus involvement and post-pituitary involvement were detected in 56% and 53% of patients, respectively. A decrease/disappearance of the lesions was observed in 17/24 (71%) of the patients undergoing late (>12 months) followups. Interestingly, ECD-ROD only rarely (7/45; 16%) revealed the disease, with exophthalmos being the most frequently identified feature in this subgroup (3/45; 6%). Even though ECD-ROD can be clinically silent, it comprises a broad array of lesions often resulting in optic nerve signal abnormalities, the functional outcome of which remains to be established. ECD-ROD should thus be assessed initially and subsequently monitored by orbital MRI and ophthalmological follow-up.
Topics: Humans; Erdheim-Chester Disease; Magnetic Resonance Imaging; Exophthalmos; Histiocytosis
PubMed: 35484665
DOI: 10.3324/haematol.2021.280510 -
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 -
Turkish Journal of Medical Sciences Apr 2018Background/aim: Insulin-like growth factor-1 receptor (IGF-1R) is a pivotal receptor tyrosine kinase involved in the cell cycle and malignant tumor transformation. It is...
Background/aim: Insulin-like growth factor-1 receptor (IGF-1R) is a pivotal receptor tyrosine kinase involved in the cell cycle and malignant tumor transformation. It is differentially expressed in various types of tumors. We aimed to determine the expression of IGF- 1R in different pediatric tumors and to shed light on possible new indications of anti-IGF-1R treatment approaches. Materials and methods: A total of 147 specimens were analyzed according to their expression of IGF-1R. Specimens included those from rhabdomyosarcomas, Wilms tumors, Ewing sarcoma/primitive neuroectodermal tumors, peripheral neuroblastic tumors, acute lymphoblastic lymphoma, Hodgkin lymphoma, Burkitt lymphoma, retinoblastoma, pleuropulmonary blastoma, Langerhans cell histiocytosis, endodermal sinus tumors (ESTs), and myeloid sarcoma. Analysis was performed on tissue sections by immunohistochemically staining for IGF-1R expression. Results: All six specimens of EST cases showed positivity for IGF-R1. Additionally, about 56% of the Hodgkin lymphoma, 80% of the rhabdomyosarcoma, and 70% of the Wilms tumor specimens showed positivity for IGF-R1 expression. Conclusion: All ESTs examined in our study expressed IGF-1R and to our knowledge this is the first report regarding ESTs and IGF-1R expression. IGF-1R could be included among confirmatory markers for ESTs and, from a therapeutic viewpoint, ESTs should also be examined for IGF-1R expression for beneficial regimens.
PubMed: 29714464
DOI: 10.3906/sag-1801-233 -
Oncology Letters Apr 2016Langerhans' cell histiocytosis (LCH) is a rare disease with a wide spectrum of clinical manifestations, varying from an isolated lesion to systemic involvement. The...
Langerhans' cell histiocytosis (LCH) is a rare disease with a wide spectrum of clinical manifestations, varying from an isolated lesion to systemic involvement. The etiology of this disease remains to be elucidated. The present study reports a case of LCH with temporal fossa localization in an 8-year-old male patient, who had exhibited left temporal pain and headache for 1 month. Physical examination revealed slight exophthalmos and conjunctival hemorrhage in the patient's left eye, and non-contrast computed tomography imaging of the head revealed a soft tissue mass with unclear margins located in the left temporal fossa, as well as a wide bony defect. Magnetic resonance imaging revealed a heterogeneously contrast-enhanced mass near the left temporal pole, which eroded into the patient's left orbit and maxillary sinus. The lesion was totally excised and confirmed to be LCH through biopsy.
PubMed: 27073529
DOI: 10.3892/ol.2016.4256 -
International Journal of Surgery Case... Aug 2021Juvenile xanthogranuloma (JXG) rarely presents as multifocal intracranial disease in the paediatric population. Therefore, this case of extensive tumour burden,...
INTRODUCTION AND IMPORTANCE
Juvenile xanthogranuloma (JXG) rarely presents as multifocal intracranial disease in the paediatric population. Therefore, this case of extensive tumour burden, primarily within the lateral ventricles, presented a neurosurgical challenge on numerous fronts.
PRESENTATION OF CASE
This is the case of a 9-year-old male presenting with a 2-year history of visual disturbances. Radiographic imaging demonstrated extensive intracranial masses involving both lateral ventricles, the straight sinus and right cerebellum. A staged tumour resection was planned, targeting the lesions within the right lateral ventricle initially. Complete resection was achieved during surgery. Post-operative morbidity showed a decline in the patient's functional status with respect to mobility and communication, Glasgow outcome scale 3. Extensive immunohistochemical analysis ultimately revealed a diagnosis of JXG. The patient is undergoing chemotherapy, with subsequent surgical resection being dependent on overall recovery.
CLINICAL DISCUSSION
JXG is the most common form of non-Langerhans histiocytosis and typically arises as a cutaneous disorder during early childhood. It is a rare cause of extensive intracranial tumour burden, with limited publications of this kind in the literature. This is even more atypical given the absence of any of the classic cutaneous morphology seen in JXG.
CONCLUSION
JXG involving the central nervous system is a rare encounter. Therefore, a clear algorithm for the management of a case of extensive intracranial tumours resulting from JXG has not been defined. This only amplifies the difficulty in treating these cases.
PubMed: 34388899
DOI: 10.1016/j.ijscr.2021.106265