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The Journal of International Medical... Apr 2024Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by massive lymphadenopathy and systemic extranodal lesions. We present the case of... (Review)
Review
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by massive lymphadenopathy and systemic extranodal lesions. We present the case of a 28-year-old woman who presented with recurrent blurred vision in her right eye for 3 months. She developed blindness and atrophy in her left eye a decade prior to presentation. She subsequently developed headache, fever, and impaired mental status. Cranial magnetic resonance imaging indicated hypertrophic pachymeningitis (HP), and F-fluoro-2-deoxy-2-d-glucose (FDG) positron emission tomography/computed tomography revealed significant FDG uptake in the left dura mater. Autoimmune testing revealed elevated anti-nuclear, anti-SS-A, and anti-SS-B antibody levels. Incisional biopsy of the atrophic eyeball revealed RDD with marked polyclonal plasmacytosis. The patient was diagnosed with RDD accompanied by multisystem involvement, including Sjögren's syndrome (SS), panuveitis, and HP. Treatment with methylprednisolone for several weeks resulted in significant improvement. This is the first reported case of RDD presenting with SS in combination with panuveitis and HP. Although RDD is rarely diagnosed in young patients, interdisciplinary collaboration is essential to prevent a delayed diagnosis.
Topics: Humans; Female; Adult; Histiocytosis, Sinus; Sjogren's Syndrome; Fluorodeoxyglucose F18; Positron Emission Tomography Computed Tomography; Hypertrophy; Panuveitis
PubMed: 38629479
DOI: 10.1177/03000605241233141 -
Leukemia & Lymphoma Apr 2024
PubMed: 38608253
DOI: 10.1080/10428194.2024.2340058 -
Journal of Clinical Neuroscience :... May 2024A 29-year-old gentleman diagnosed with Rosai-Dorfman disease (RDD) on corneal biopsy, 2 years ago, presented with fluctuating left-sided numbness, intermittent slurred...
A 29-year-old gentleman diagnosed with Rosai-Dorfman disease (RDD) on corneal biopsy, 2 years ago, presented with fluctuating left-sided numbness, intermittent slurred speech, and urinary incontinence, progressively worsening over the past three months.
Topics: Humans; Histiocytosis, Sinus; Male; Adult; Magnetic Resonance Imaging
PubMed: 38599033
DOI: 10.1016/j.jocn.2024.03.031 -
Journal of Cardiothoracic Surgery Apr 2024Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease, is a rare, self-limiting disease that predominantly affects children and young...
BACKGROUND
Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease, is a rare, self-limiting disease that predominantly affects children and young adults. Moreover, the disease is characterized by painless bilateral cervical lymphadenopathy in 95% of the patients. However, few reports are available on the Rosai-Dorfman disease of the thymus.
CASE PRESENTATION
We report a rare case of thymic Rosai-Dorfman disease detected using computed tomography. During a medical examination, a 50-year-old man underwent a chest computed tomography scan, which revealed an anterior mediastinal single mass with fat in the thymus. A thymectomy was performed to completely remove the tumor using a thoracoscopic technique due to a clinical suspicion of thymoma. Furthermore, Rosai-Dorfman disease was confirmed using histological and immunohistochemical analyses.
CONCLUSIONS
To the best of our knowledge, this is the sixth case of thymus-affecting solitary Rosai-Dorfman disease with histological and immunohistochemical evidence. Fat in the thymus, as was present in this case, has never been described in Rosai-Dorfman disease previously. Our results highlight the challenge of diagnosing this uncommon tumor before surgery, and more cases need to be reported to help with the preoperative diagnosis of such a rare tumor.
Topics: Humans; Male; Middle Aged; Diagnosis, Differential; Histiocytosis, Sinus; Mediastinal Diseases; Neoplasms; Tomography, X-Ray Computed
PubMed: 38575975
DOI: 10.1186/s13019-024-02714-x -
Indian Journal of Otolaryngology and... Apr 2024To study the presentation and plan of treatment of patient with Rosai Dorfman Disease. Rosai-Dorfman disease(RDD), is rare, non-neoplastic, multisystemic histiocytic...
To study the presentation and plan of treatment of patient with Rosai Dorfman Disease. Rosai-Dorfman disease(RDD), is rare, non-neoplastic, multisystemic histiocytic disorder. Nodal form is more common. It's self-limiting disorder of unknown etiology. Symptomatic treatment is mainstay. Bardet-Biedl syndrome (BBS) is rare ciliopathic, autosomal-recessive disorder, affecting multiple organs. Characterized by marked central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism and renal dysfunction. Treatment is symptomatic with hormone supplementation & regular follow-ups. 10 year male presented with swelling over left side of neck and intermittent fever since 2 years, diminished vision in night since 5 years. History of similar complaints on right side 5 years back. Fine needle aspiration cytology(FNAC)-features consistent with Rosai Dorfman Disease. Examination showed short stature, squint eyes, polydactyly. Multiple palpable neck nodes of variable sizes. Ophthalmic evaluation showed Retinitis Pigmentosa. Paediatric consultation for syndromic evaluation, features were consistent with Bardet Biedel syndrome. Since the presentation is same as that of opposite side in past, because of recurrence of symptoms even with regular antibiotic and steroid therapy, and no local recurrence of disease on right side, surgical excision is planned for the patient. Rosai-Dorfman disease and Bardet-Biedl syndrome are rare disorders presenting many diagnostic and therapeutic challenges. High degree of clinical suspicion (RDD & BBS) with typical histopathological features (RDD) are diagnostic. Symptomatic treatment is useful and surgical excision can be done for recurrent/ complicated cases of RDD while symptomatic treatment with regular follow-up for BBS.
PubMed: 38566667
DOI: 10.1007/s12070-023-04374-0 -
Journal of Cardiothoracic Surgery Apr 2024Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive... (Review)
Review
BACKGROUND
Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis.
CASE PRESENTATION
Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation.
CONCLUSIONS
No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.
Topics: Adult; Humans; Male; Histiocytosis, Sinus; Mediastinum; Mutation; Proto-Oncogene Proteins p21(ras); Thorax
PubMed: 38561747
DOI: 10.1186/s13019-024-02668-0 -
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 -
SAGE Open Medical Case Reports 2024Rosai-Dorfman disease is a rare non-Langerhans cell histiocytosis disorder, also known as sinus histiocytosis, with massive lymphadenopathy. Rosai-Dorfman disease is...
Rosai-Dorfman disease is a rare non-Langerhans cell histiocytosis disorder, also known as sinus histiocytosis, with massive lymphadenopathy. Rosai-Dorfman disease is classified into nodal and extranodal diseases. Ocular involvement is one of the common extranodal manifestations; however, uveitis manifestation is infrequent. We reported an interesting Rosai-Dorfman disease patient who presented with chronic bilateral granulomatous anterior uveitis with disc hyperemia and cystoid macular edema. She was a 60-year-old Thai female who had abnormal skin nodules on her back after multiple recurrent chronic anterior uveitis. The diagnosis has been made based on a constellation of the patient's information, physical examination, and histopathological results. We successfully treated the patient with topical steroids, posterior subtenon triamcinolone 20-mg injection, and methotrexate.
PubMed: 38505579
DOI: 10.1177/2050313X241239528 -
The American Journal of Case Reports Mar 2024BACKGROUND Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman disease, or Rosai-Dorfman-Destombes disease (RDD), is a rare non-Langerhans cell of...
BACKGROUND Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman disease, or Rosai-Dorfman-Destombes disease (RDD), is a rare non-Langerhans cell of unknown etiology. This report is of a case of isolated SHML, or Rosai-Dorfman disease, presenting as a right atrial mass with involvement of the tricuspid valve in a 54-year-old woman. This case shows the challenges of diagnosing this condition in the heart and the challenges of treating this rare disease with the limited information on the efficacy of the treatment modalities. CASE REPORT A 54-year-old Asian woman presented to the Emergency Department with chest and right upper quadrant pain. Transthoracic echocardiogram and computed tomography angiography showed a right atrium mass at the level of the tricuspid valve, causing moderate-severe regurgitation. Partial tumor debulking with biopsies later showed pink-yellow soft tissue, with histopathology showing histiocytes demonstrating emperipolesis. The tumor was positive for CD68 and S100 and negative for CD1a, consistent with Rosai-Dorfman disease. Subsequently the patient received targeted therapy with cobimetinib, without worsening cardiac function or disease progression. CONCLUSIONS This case highlights the challenging histopathological diagnosis of SHML, or Rosai-Dorfman disease, particularly in non-lymphoid tissue, such as the heart. Obtaining tissue for diagnosis can be challenging in this organ. Treatment is challenging when the mass cannot be extracted completely, like in our case, because other forms of therapies are not well studied and warrant further investigation, such as cobimetinib, which is a MEK pathway inhibitor approved in 2022 by the US Food and Drug Administration for histiocytic neoplasms.
Topics: United States; Female; Humans; Middle Aged; Histiocytosis, Sinus; Tricuspid Valve; Biopsy; Neoplasms
PubMed: 38501248
DOI: 10.12659/AJCR.942511 -
Pathologie (Heidelberg, Germany) May 2024A radiologically diagnosed tumor in a 29-year-old woman with a fever of around 39 °C was operated on under the suspicion of cholecystitis or a liver abscess....
A radiologically diagnosed tumor in a 29-year-old woman with a fever of around 39 °C was operated on under the suspicion of cholecystitis or a liver abscess. A solid tumor was found in the adrenal gland and resected. The frozen section findings did not reveal a clear diagnosis of entity and assignment. Histologically, the tumor was found to consist of densely clustered large histiocyte-like cells with expression of vimentin, CD68, and CD163 as well as negativity for keratin, langerin, and SMA. We diagnosed xanthogranulomatous adrenalitis and discussed the differential diagnoses (Langerhans cell histiocytosis, Rosai-Dorfman disease, malakoplakia, Erdheim-Chester disease).
Topics: Humans; Adult; Female; Diagnosis, Differential; Adrenal Gland Neoplasms; Xanthomatosis; Granuloma; Adrenal Gland Diseases; Erdheim-Chester Disease; Histiocytosis, Sinus
PubMed: 38472383
DOI: 10.1007/s00292-024-01312-x