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American Journal of Hematology Jan 2002Sinus histiocytosis with massive lymphadenopathy (SHML) is a rare disorder of unknown etiology, usually associated with lymph node enlargement in various superficial or... (Review)
Review
Sinus histiocytosis with massive lymphadenopathy (SHML) is a rare disorder of unknown etiology, usually associated with lymph node enlargement in various superficial or deep sites. It usually shows a prolonged clinical course with occasional exacerbation and remission phases. We describe the long-term follow-up of a case of SHML that showed typical clinical features and in which various therapeutic strategies were attempted. Chemotherapy and alpha-interferon (IFN) were ineffective; surgery was ultimately required with satisfactory results. From an extensive literature review we found different treatment strategies in SHML in the 80 cases published between 1969 and 2000. Spontaneous resolution of adenopathies is frequently observed: 32 out of 40 cases which did not receive chemotherapy, radiotherapy, or surgery were healthy at the time of publication. Radiotherapy alone showed conflicting results: 3 complete remissions (CR) were obtained in the 9 patients treated. Surgical debulking when required was effective--8/9 CR--while chemotherapy showed generally negative results. IFN has been previously employed in only one case. In conclusion, clinical observation without treatment is advisable when possible. In the presence of vital organ compression and/or extranodal localization with important clinical signs, surgical debulking may be necessary. Radiotherapy has shown limited efficacy, while chemotherapy is in general ineffective. More experience is needed to evaluate the role of IFN.
Topics: Anti-Inflammatory Agents, Non-Steroidal; Axilla; Biopsy; Bone Marrow; Histiocytosis, Sinus; Humans; Interferon-alpha; Lymph Nodes; Lymphatic Diseases; Male; Middle Aged; Neck; Radiotherapy; Remission Induction; Tomography, X-Ray Computed
PubMed: 11835335
DOI: 10.1002/ajh.10008 -
European Journal of Case Reports in... 2022Rosai-Dorfman-Destombes disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare non-Langerhans cell histiocytosis of unknown cause. The disease often...
UNLABELLED
Rosai-Dorfman-Destombes disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare non-Langerhans cell histiocytosis of unknown cause. The disease often manifests as painless bilateral cervical lymphadenopathy associated with systemic symptoms such as fever and weight loss. Extranodal disease is also frequent and can involve any organ, mostly the skin, nasal cavity, bone, and retro-orbital tissue. Swelling of cartilaginous tissues, such as the helix of the ear or laryngeal structures, may mimic the entity known as relapsing polychondritis. Although spontaneous remission is the most expected evolution, some cases require systemic treatment with prednisone, methotrexate or cytotoxic agents, with variable rates of success. In this respect, since somatic variants in the genes involved in the mitogen-activated protein kinase (MAPK) and extracellular signal-regulated kinases (ERK) pathway have been observed to play a pathogenic role in RDD. Therefore, the use of therapies targeting these pathogenic variants appears to be a reasonable strategy. Here we present the case of a 37-year-old woman with RDD and extensive extranodal involvement that showed a rapid and complete response to the MEK inhibitor cobimetinib.
LEARNING POINTS
Rosai-Dorfman-Destombes disease (RDD) may mimic the entity known as relapsing polychondritis but should be treated with drug therapy for the underlying disease.Mutations in MAPK/ERK pathway components should be determined in RDD with systemic involvement, although testing to determine every somatic mutation responsible for the disease is not available in all healthcare centres.MEK inhibitors like cobimetinib could be effective in RDD cases with severe and refractory systemic disease, even if molecular analysis has not been possible.
PubMed: 35265540
DOI: 10.12890/2022_003076 -
Saudi Medical Journal Apr 2022To document the clinicopathological features of Rosai-Dorfman disease (RDD) at 2 tertiary hospitals in the western region of Saudi Arabia.
OBJECTIVES
To document the clinicopathological features of Rosai-Dorfman disease (RDD) at 2 tertiary hospitals in the western region of Saudi Arabia.
METHODS
We retrieved all cases diagnosed as RDD at King Abdulaziz University Hospital and King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia, diagnosed between January 2001 until June 2021.
RESULTS
A total of 13 new RDD cases were reported, including 7 nodal and 6 extranodal type. The extranodal sites included larynx, optic chiasm, dura and brain, lumbar vertebrae, and left arm soft tissue.There were 6 males and 7 females. Ages averaged 34 years and ranged from 4-56 years. A total of 2 cases were associated with Hodgkin's lymphoma, and 2 cases have been initially misdiagnosed as other entities. All patients were treated with surgical excision, and steroid was added in 3 cases. Over 2-60 months of follow-up, recurrence occurred in 2 cases.
CONCLUSION
Awareness of this entity is important for pathologists to avoid misdiagnosis. While the optimal treatment remains controversial, surgical resection is generally curative. The prognosis is good with rare recurrence. Multicenteer prospective studies are probably the best to evaluate treatment options and improve outcomes.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Histiocytosis, Sinus; Humans; Male; Middle Aged; Prognosis; Prospective Studies; Saudi Arabia; Tertiary Care Centers; Young Adult
PubMed: 35414611
DOI: 10.15537/smj.2022.43.4.20220028 -
Asian Journal of Surgery Nov 2023
Topics: Humans; Histiocytosis, Sinus; Diagnosis, Differential
PubMed: 37479651
DOI: 10.1016/j.asjsur.2023.07.046 -
Orphanet Journal of Rare Diseases Mar 2022Rosai-Dorfman-Destombes disease (RDD) is a rare histiocytic disorder with heterogeneous clinical manifestations and rare neurologic involvement. The existing clinical...
BACKGROUND
Rosai-Dorfman-Destombes disease (RDD) is a rare histiocytic disorder with heterogeneous clinical manifestations and rare neurologic involvement. The existing clinical literature about neurologic RDD has yet to be critically examined.
METHODS
We performed a four-database English-language systematic literature search for cases of RDD neurohistiocytosis, excluding secondary literature. Individual patient data for neurologic symptoms, disease sites, treatments, and responses were captured. Responses to first-line and second-line surgical interventions, post-surgical radiotherapy, and systemic therapies were analyzed.
RESULTS
Among 4769 articles yielded by literature search, 154 articles were fully reviewed, containing data on 224 patients with neurologic RDD. 128 (83.1%) articles were single case reports. 149 (66.5%) patients were male, 74 (33.5%) female, with a median age of 37.6 years (range 2-79). Presenting neurologic symptoms included headache (45.1%), focal neurological deficits (32.6%), visual symptoms (32.1%), and seizures (24.6%). RDD involvement was multifocal in 32 (14.3%) cases. First-line treatment involved resection in 200 (89.6%) patients, with subsequent progression in 52 (26%), including 41 (78.8%) with unifocal disease. No difference was observed in progression-free survival comparing post-operative radiotherapy to no radiotherapy following partial resection. Chemotherapy given alone as first-line treatment led to complete or partial response in 3/7(43%) patients. Second-line treatments led to complete or partial response in 18/37(37.5%) patients. Mutational data were reported on 10 patients (4.46%).
CONCLUSIONS
This review highlights the limited published data about neurologic RDD, which presents with varied symptomatology and outcome. Further study is needed about its mutational landscape, and more effective therapies are needed for recurrent and refractory disease.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Histiocytosis, Sinus; Humans; Male; Middle Aged; Nervous System; Young Adult
PubMed: 35236371
DOI: 10.1186/s13023-022-02220-0 -
Zhongguo Yi Xue Ke Xue Yuan Xue Bao.... Apr 2022Objective To investigate the clinical and magnetic resonance imaging(MRI) manifestations of Rosai-Dorfman disease(RDD) in central nervous system. Method The clinical and...
Objective To investigate the clinical and magnetic resonance imaging(MRI) manifestations of Rosai-Dorfman disease(RDD) in central nervous system. Method The clinical and MRI data of 5 cases of RDD in central nervous system confirmed by pathology in the PLA General Hospital were analyzed retrospectively. Results The 5 cases included 4 males and 1 female,aged(39.8±21.7) years on average.Among them,4 cases were located in the intracranial area and 1 case in the thoracic spinal canal.The lesion showed isointense signal on T weighted image and iso,slight-hypo,and slight-hyperintense signals on T weighted image,and it presented intensively homogeneous enhancement in contrast-enhanced MRI.Two cases showed compressed brain area with edema around the left parietal and left frontotemporal dura,thickening and enhancement in the adjacent dura,and dural tail sign.Three cases presented bone destruction in adjacent diploe and thoracic vertebrae.One case showcased slight-hypo perfusion of the left parietal dura in arterial spin labeling. Conclusions RDD lesion usually appears as iso,slight hypo and slight hyper-intense signals on T weighted image and presents intensively homogeneous enhancement in contrast-enhanced MRI.The disease may involve the adjacent bone and the lesion shows slight hypo-perfusion on perfusion images.The MRI manifestations of RDD are characteristic,which are helpful for preoperative diagnosis and evaluation of RDD.
Topics: Central Nervous System; Female; Head; Histiocytosis, Sinus; Humans; Magnetic Resonance Imaging; Male; Retrospective Studies
PubMed: 35538751
DOI: 10.3881/j.issn.1000-503X.14703 -
Seminars in Pediatric Surgery May 2006Lymphadenopathy refers to any disease process involving lymph nodes that are abnormal in size and consistency. Lymphadenitis specifically refers to lymphadenopathies... (Review)
Review
Lymphadenopathy refers to any disease process involving lymph nodes that are abnormal in size and consistency. Lymphadenitis specifically refers to lymphadenopathies that are caused by inflammatory processes. Cervical lymphadenopathy is a common problem in the pediatric age group and is largely inflammatory and infectious in etiology. Although most patients are treated successfully by their primary care physician, surgical consultation is frequently required for patients who fail to respond to initial therapy or for those in whom there is an index of suspicion for a neoplastic process. This article addresses current approaches to the diagnosis and management of cervical lymphadenitis in children.
Topics: Acute Disease; Child; Chronic Disease; Diagnostic Imaging; Histiocytosis, Sinus; Humans; Lymph Nodes; Lymphadenitis; Medical History Taking; Mucocutaneous Lymph Node Syndrome; Opportunistic Infections; Physical Examination; Sarcoidosis
PubMed: 16616313
DOI: 10.1053/j.sempedsurg.2006.02.007 -
The Turkish Journal of Pediatrics 2016Rosai-Dorfman disease is a rare benign histiocytic disorder that arises predominantly in lymph nodes with fever and malaise, but can affect various organs, with or... (Review)
Review
Rosai-Dorfman disease is a rare benign histiocytic disorder that arises predominantly in lymph nodes with fever and malaise, but can affect various organs, with or without lymphadenopathy. Solitary extranodal skeletal lesions are extremely rare. Herein, we describe a case of isolated disease of thoracic spine, with vertebral body fracture. A 14-year-old girl presented with cervical back pain for about one month as the only symptom. There was no lymphadenopathy. Results of laboratory tests were within reference ranges. The radiological examinations revealed collapse, osteolytic lesion and compressive fracture, which reduced vertical diameter of C4 vertebral body. The patient made a complete recovery after a limited C4 laminectomy, spondylodesis C3/C5 vertebra and biopsy of the lesion. Histologically, nonspecific cellular milieu and atypical histiocytic proliferation with emperipolesis, with CD68 and S100 positivity, confirmed a diagnosis of Rosai-Dorfman disease. Isolated extranodal skeletal Rosai-Dorfman disease should be considered among the differential diagnoses of similar changes, such as Langerhans cell histiocytosis, Erdheim-Cheister disease, eosinophilic granuloma, osteomyelitis, metastasis and lymphoma.
Topics: Adolescent; Biopsy; Diagnosis, Differential; Female; Histiocytosis, Sinus; Humans; Laminectomy; Thoracic Vertebrae
PubMed: 28621104
DOI: 10.24953/turkjped.2016.05.020 -
BMJ Case Reports Dec 2019We present an atypical presentation of Rosai-Dorfman disease (RDD). Due to its overlap with IgG4-related disease (IgG4-RD), this case proved to be a diagnostic dilemma....
We present an atypical presentation of Rosai-Dorfman disease (RDD). Due to its overlap with IgG4-related disease (IgG4-RD), this case proved to be a diagnostic dilemma. Our case is an example of the importance of having a broad-based differential and, ultimately, an in-depth histopathological review. Our patient presented with a constellation of symptoms suggestive of an underlying malignancy. He was provisionally diagnosed with peritoneal carcinomatosis of an unknown primary. His initial presentation triggered a series of investigations, surgery and biopsies. Omental biopsy specimens were suggestive of IgG4-RD. Despite appropriate treatment for IgG4-RD, his disease progressed, specifically in the lungs. Pleural biopsies were then collected and assessed alongside the omental biopsies. On review and reassessment, the patient was formally diagnosed with RDD.
Topics: Aged; Biopsy; Diagnosis, Differential; Histiocytosis, Sinus; Humans; Immunoglobulin G4-Related Disease; Male; Mesentery; Pleura
PubMed: 31791991
DOI: 10.1136/bcr-2019-232165 -
Surgical Neurology International 2019Langerhans cell histiocytosis (LCH) is a term describing a clonal proliferation of pathologic Langerhans cells (histiocytes), which may manifest as unisystem (unifocal...
BACKGROUND
Langerhans cell histiocytosis (LCH) is a term describing a clonal proliferation of pathologic Langerhans cells (histiocytes), which may manifest as unisystem (unifocal or multifocal) or multisystem disease. LCH is a rare cause of the orbital tumor with the predilection to its lateral wall which is particularly common in children.
CASE DESCRIPTION
We report an unusual case of a 33-year-old woman, 6 months after childbirth, who presented with the edema of the right orbit and upper eyelid with headaches. On physical examination, the patient had a right superior and lateral swelling of the eyelid and the orbit and right enophthalmos, without blurred vision. Magnetic resonance imaging showed well-defined, expansile, intensely homogeneously enhancing mass lesion in the right superolateral orbital rim with the destruction of the upper wall of the orbit, growing into the frontal sinus and frontal part of the cranium with the bold of the dura mater in this region. Radical excision of the tumor was achieved through a right fronto-temporo-orbito-zygomatic craniotomy. Histopathological examination had confirmed the diagnosis of the LCH. The patient was discharged home with a modified Rankin Scale score of 0.
CONCLUSION
The main purpose of this case report is that LCH should be considered as one of the possible causes of quickly appearing tumor of the orbit in adults.
PubMed: 31893135
DOI: 10.25259/SNI_140_2019