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World Journal of Nuclear Medicine Jun 2024Rosai-Dorfman-Destombes (RDD) disease is also known as sinus histiocytosis with massive lymphadenopathy. It is an uncommon heterogeneous disease of children and young...
Rosai-Dorfman-Destombes (RDD) disease is also known as sinus histiocytosis with massive lymphadenopathy. It is an uncommon heterogeneous disease of children and young adults. Most of the patients with RDD generally present with painless lymphadenopathy, while extranodal and multisystem manifestation of the disease is unusual. The diagnosis is based on the imaging with clinicopathological correlation. Flourine-18 fluorodeoxyglucose positron emission tomography/computed tomography is useful for the initial staging of the RDD lesions, which have similar appearance and avidity like intermediate and high-grade lymphomas. Here, we present the case of a 55-year-old female presented with left breast mass that turned out to be the extranodal Rosai-Dorfman disease.
PubMed: 38933064
DOI: 10.1055/s-0043-1760763 -
Journal of Cardiothoracic Surgery Jun 2024Rosai-Dorfman disease (RDD), known as sinus histiocytosis with massive lymphadenopathy, commonly involves lymph nodes in the neck or mediastinum, although extranodal...
BACKGROUND
Rosai-Dorfman disease (RDD), known as sinus histiocytosis with massive lymphadenopathy, commonly involves lymph nodes in the neck or mediastinum, although extranodal involvement is observed in approximately 40% of RDD patients. RDD involving only the thymus has rarely been reported. Here, we report a case of RDD originating in the thymus. The lesion was surgically removed, and a cure was finally achieved. There was no recurrence after telephone follow-up for 3 years.
CASE PRESENTATION
A 52-year-old male was accidentally found to have a 7 × 6 cm anterior mediastinum lump by chest computed tomography (CT). The mediastinal lesion was resected by surgery, and postoperative pathology revealed RDD originating from the thymus. Regular telephone follow-up after surgery lasted 3 years and showed that the patient remained in good condition without any relevant symptoms.
CONCLUSIONS
RDD originating in the thymus cannot be characterized from CT images and is easily misdiagnosed as a traditional mediastinal tumor. This is mainly because there is so little disease in this area that physicians are not aware of it. We report this case with the hope that clinicians will have a better understanding of this disease. According to our follow-up results, surgery is an effective means of treatment.
Topics: Humans; Male; Histiocytosis, Sinus; Middle Aged; Tomography, X-Ray Computed; Thymus Gland
PubMed: 38907282
DOI: 10.1186/s13019-024-02919-0 -
Cutaneous Rosai-Dorfman disease: a systematic review and reappraisal of its treatment and prognosis.Archives of Dermatological Research Jun 2024Cutaneous Rosai Dorfman disease (CRDD) is a rare histiocytic disorder that shows distinctive clinical presentation and prognosis. Sufficient data is currently lacking... (Review)
Review
Cutaneous Rosai Dorfman disease (CRDD) is a rare histiocytic disorder that shows distinctive clinical presentation and prognosis. Sufficient data is currently lacking regarding evidence-based management of CRDD. This systematic review aims to provide a comprehensive overview of CRDD, focusing on treatment approaches and outcomes. PubMed and Scopus databases were searched for studies on CRDD from June 1st, 2013 to May 31st, 2023. Articles describing cases of CRDD confirmed with histological examination were eligible for inclusion. All interventions for CRDD were analyzed. The primary outcome measure was the response of cutaneous lesions to treatment including complete response (CR), partial response (PR), and no response. The secondary outcome measures were mortality rate, relapse rate, and the occurrence of adverse events related to CRDD treatment. Eighty-seven articles describing 118 CRDD cases were included. The mean age was 48.2±16.8 years. The sex ratio (F/M) was 1.53. Nodular (46.6%) erythematous (45.3%) lesions, located on the face (38.1%) were the most prevalent presentations. Associated hematological malignancies were noted in 8 (6.8%) cases. Surgical excision was the most prevalent intervention (51 cases) with CR in 48 cases. Systemic corticosteroids were used in 32 cases with 20 CR/PR, retinoids in 10 cases with 4 CR/PR, thalidomide in 9 cases with 5 CR/PR, methotrexate in 8 cases with 7 CR/PR while observation was decided in 10 cases with 6 CR/PR. Factors independently associated with the absence of response to treatment were facial involvement (OR = 0.76, p = 0.014), and cutaneous lesion size (OR = 1.016, p = 0.03). This systematic review shows distinctive clinical characteristics of CRDD and provides insights into the appropriate management of the disease. It allowed a proposal of a treatment algorithm that should be interpreted in the context of current evidence and would help practitioners in treating this rare disease.
Topics: Humans; Histiocytosis, Sinus; Prognosis; Treatment Outcome; Female; Skin; Male; Middle Aged; Adrenal Cortex Hormones; Retinoids; Skin Diseases; Methotrexate; Adult
PubMed: 38878198
DOI: 10.1007/s00403-024-02982-6 -
Clinical Case Reports Jun 2024Intracranial RDD is rare medical event mimicking different diagnoses. Although the surgical resection is the best treatment option, but radiation therapy can also...
KEY CLINICAL MESSAGE
Intracranial RDD is rare medical event mimicking different diagnoses. Although the surgical resection is the best treatment option, but radiation therapy can also achieves long-term suboptimal outcomes.
ABSTRACT
An 83-year-old male with a history of tension-type headaches was evaluated. He was conscious with no focal neurological deficits. His brain MRI revealed an enhancable bifrontal tumor originating from falx cerebri and superior sagittal sinus dura. Due to the patient's preference and decline for gross total resection, she underwent a stereotactic biopsy. The pathology was positive for Rosai-Dorfman diseases. He received definitive targeted radiation with a total dose of 4500 cGy administered in 200 cGy daily fractions. His 4-year follow-up showed regional tumor control with excellent neurological outcome.
PubMed: 38868118
DOI: 10.1002/ccr3.9053 -
Journal of Medicine and Life Feb 2024Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis disorder characterized by the proliferation of histiocytes within the lymph nodes. Extranodal...
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis disorder characterized by the proliferation of histiocytes within the lymph nodes. Extranodal involvement can occur; however, only 10% of extranodal RDD involve the skin. We present a unique case of a 66-year-old woman with cutaneous RDD followed by the development of multiple myeloma (MM). To our knowledge, this is only the second reported case where RDD preceded a diagnosis of MM, with the first documented instance occurring in 2018. The patient presented to the dermatology clinic with a 5-year history of painless, solitary lesion over the right cheek. Local examination revealed a single 6 mm x 7 mm well-circumscribed pearly telangiectatic lesion resembling basal cell carcinoma over the right nasolabial fold and cheek. The lesion was excised with a 3 mm circumferential margin. Histopathology showed a mixed lymphohistiocytic cell infiltrate with emperipolesis and immunohistochemical staining patterns consistent with RDD. Two years later, the patient presented with hip pain and was diagnosed with MM. She was treated with lenalidomide, bortezomib, and dexamethasone, and was later maintained on lenalidomide. Our case adds to the limited evidence suggesting a potential association between RDD and MM. Further research in this field is required to promptly identify and manage patients with such a presentation in the future.
Topics: Humans; Histiocytosis, Sinus; Female; Aged; Multiple Myeloma; Carcinoma, Basal Cell; Diagnosis, Differential; Skin Neoplasms; Face
PubMed: 38813357
DOI: 10.25122/jml-2023-0337 -
Acta Neuropathologica Communications May 2024Neurologic Rosai-Dorfman disease (RDD) is a rare type of non-Langerhans cell histiocytosis that affects the central nervous system. Most neurologic RDDs grow like...
Neurologic Rosai-Dorfman disease (RDD) is a rare type of non-Langerhans cell histiocytosis that affects the central nervous system. Most neurologic RDDs grow like meningiomas, have clear boundaries, and can be completely resected. However, a few RDDs are invasive and aggressive, and no effective treatment options are available because the molecular mechanisms involved remain unknown. Here, we report a case of deadly and glucocorticoid-resistant neurologic RDD and explore its possible pathogenic mechanisms via single-cell RNA sequencing. First, we identified two distinct but evolutionarily related histiocyte subpopulations (the C1Q+ and SPP1+ histiocytes) that accumulated in the biopsy sample. The expression of genes in the KRAS signaling pathway was upregulated, indicating gain-of-function of KRAS mutations. The C1Q+ and SPP1+ histiocytes were highly differentiated and arrested in the G1 phase, excluding the idea that RDD is a lympho-histio-proliferative disorder. Second, although C1Q+ histiocytes were the primary RDD cell type, SPP1+ histiocytes highly expressed several severe inflammation-related and invasive factors, such as WNT5A, IL-6, and MMP12, suggesting that SPP1+ histiocytes plays a central role in driving the progression of this disease. Third, oligodendrocytes were found to be the prominent cell type that initiates RDD via MIF and may resist glucocorticoid treatment via the MDK and PTN signaling pathways. In summary, in this case, we report a rare presentation of neurologic RDD and provided new insight into the pathogenic mechanisms of progressive neurologic RDD. This study will also offer evidence for developing precision therapies targeting this complex disease.
Topics: Humans; Male; Histiocytes; Histiocytosis, Sinus; Proto-Oncogene Proteins p21(ras); Single-Cell Analysis; Wnt-5a Protein; Middle Aged
PubMed: 38769536
DOI: 10.1186/s40478-024-01794-z -
The American Journal of Case Reports May 2024BACKGROUND Langerhans cell histiocytosis (LCH) is a rare and uncontrolled proliferation of dendritic cells of myeloid origin. The incidence of LHC was estimated at 5...
BACKGROUND Langerhans cell histiocytosis (LCH) is a rare and uncontrolled proliferation of dendritic cells of myeloid origin. The incidence of LHC was estimated at 5 cases per million children ages 0-15 years old. The most common places for this tumor are the jaw, vertebra, pelvis, and the extremities. The disease with multisystem involvement can present a mortality rate of 20% and one-third of children have multisystem involvement. We present a case with unusual bone involvement of the anterior cranial base with a challenging diagnosis and a complex surgical approach. CASE REPORT We report the case of a 6-year-old boy who manifested the disease with daily holocranial headache, worse in the frontal region and refractory to analgesia for 10 days, strabismus homonymous, diplopia, and right palpebral ptosis. The tumor affected the sphenoid sinus, internal carotid artery, and sella turcica, and made contact with the pituitary gland. A joint surgery with Otorhinolaryngology and Neurosurgery was performed by nasal endoscopic access to the skull base by means of the right medial turbinectomy (for the access) and right sphenoid opening, septectomy and opening of the left sphenoid to work with 4 hands and, after resection of lesion, inside the sphenoid. CONCLUSIONS This patient had rare bone involvement from LCH and atypical clinical presentation next to the important and delicate structures of the anterior skull base, but had a satisfactory outcome.
Topics: Humans; Histiocytosis, Langerhans-Cell; Male; Sphenoid Sinus; Child
PubMed: 38764221
DOI: 10.12659/AJCR.942681 -
The British Journal of Oral &... Jun 2024Rosai-Dorfman disease (RDD) is a rare histiocytic disorder with an unclear aetiology, and commonly presents with painless, bilateral cervical lymphadenopathy. Extranodal...
Rosai-Dorfman disease (RDD) is a rare histiocytic disorder with an unclear aetiology, and commonly presents with painless, bilateral cervical lymphadenopathy. Extranodal presentation in the absence of nodal involvement has been reported to have a predilection for the head and neck with less than 20 cases involving the jaw bones and sinuses. We present an interesting case of unifocal RDD of the infratemporal space in the absence of nodal involvement in a 61-year-old female treated with surgical excision and adjuvant radiation therapy.
Topics: Humans; Histiocytosis, Sinus; Female; Middle Aged; Tomography, X-Ray Computed
PubMed: 38762361
DOI: 10.1016/j.bjoms.2024.04.014 -
Journal of Clinical Immunology May 2024
Topics: Humans; Histiocytosis, Sinus; Follow-Up Studies; Female; Male; Mutation; Autoimmune Diseases
PubMed: 38758494
DOI: 10.1007/s10875-024-01728-3 -
Journal of Wound Care May 2024The aim of this case report is to investigate an uncommon presentation of Rosai-Dorfman-Destombes (RDD) disease, and discuss possible differential diagnoses and...
OBJECTIVE
The aim of this case report is to investigate an uncommon presentation of Rosai-Dorfman-Destombes (RDD) disease, and discuss possible differential diagnoses and treatment options for this pathology. RDD is a rare disorder of histiocytes that typically presents in patients as painless cervical lymphadenopathy. However, this case involves a patient with the central nervous system (CNS) type of RDD who later developed cutaneous lesions.
METHOD
Several differential diagnoses were examined, including hidradenitis suppurativa, pilonidal cyst and pressure ulcers. It is important to be able to exclude these diagnoses based on the presentation, patient demographic and wound location.
RESULTS
Biopsies verified the presence of RDD in the patient's suprasellar hypothalamic mass and skin lesions, confirming the patient had both CNS-RDD and cutaneous-RDD in the absence of lymphadenopathy.
CONCLUSION
Recognising the unique manifestations of rare diseases such as RDD prevents delay of proper intervention and treatment.
Topics: Adult; Female; Humans; Diagnosis, Differential; Histiocytosis, Sinus; Pressure Ulcer
PubMed: 38683815
DOI: 10.12968/jowc.2024.33.Sup5.S10