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1.
《Best Practice & Research: Clinical Rheumatology》2020,34(4):101510
Erdheim–Chester disease (ECD) is a rare but increasingly recognized multi-system disorder. Its diagnosis and treatment require integration of clinical information, imaging studies, and pathology studies. Of note, ECD can now be defined as a clonal myeloid disorder due to mutations which activate mitogen-activated protein kinase (MAPK) pathways and where an inflammatory milieu is important in the pathogenesis and clinical manifestations of the disease. Biopsy demonstrating characteristic histopathologic features in addition to clinical and radiographic features, most often sclerosing long bone involvement, is required to establish a diagnosis. Detection of somatic MAPK pathway mutations can also assist in the differential diagnosis of ECD and related histiocytic neoplasms. Also, genetic analysis establishing BRAF and RAS mutational status is critical in all ECD patients, as these features will impact therapy with MAPK inhibition. Therapy is recommended at diagnosis in all patients, except for those patients with minimally symptomatic disease. Prospective therapeutic trials are essential to furthering therapeutic progress in ECD. 相似文献
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Erdheim–Chester disease is characterized by long bone pain and symmetric sclerosis of the diametaphyseal portions of the long
bones. It is an important differential diagnosis of sclerotic disease of the bones. 相似文献
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A 62-year-old man presented with diabetes insipidus, pulmonary fibrosis, right atrial tumor and bilateral knee osteoarthritis
with cystic lesions of distal femur and proximal tibia. Scintigraphy and histological examination of right femur bone biopsy
revealed changes characterized for Paget’s disease. Re-evaluation of the computer tomography (CT) scans and histological samples
revealed diffuse infiltrates of foamy histiocytes in the bone marrow what was consistent with Erdheim–Chester disease. Positron
emission tomography/computed tomography (PET/CT) was performed to access the activity and extent of disease. 相似文献
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Afif Nakhleh Gleb Slobodin Nizar Elias Jacob Bejar 《Modern rheumatology / the Japan Rheumatism Association》2016,26(4):621-624
Erdheim–Chester disease (ECD) is a rare form of non-Langerhans histiocytosis with heterogeneous clinical manifestations. The most common presentation is bone pains typically involving the long bones. Approximately 75% of the patients develop extraskeletal involvement. Cardiac involvement is seen in up to 45% of the patients, and although, pericardial involvement is the most common cardiac pathology of this rare disease, cardiac tamponade due to ECD has been very rarely reported. We describe a case of a patient found to have ECD with multi-organ involvement and small pericardial effusion, which progressed to cardiac tamponade despite treatment with interferon alpha. 相似文献
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Improvement of Erdheim–Chester disease in two patients by sequential treatment with vinblastine and mycophenolate mofetil 总被引:1,自引:0,他引:1
Erdheim–Chester disease (ECD) is a rare non-Langerhans form of histiocytosis with a plethora of different clinical manifestations owing to multiple organ involvement. We report two patients who presented initially with different clinical symptoms. The presenting complaint of the first patient was bone pain, predominantly in the legs, whereas in the other patient the initial symptoms were related to obstruction of both ureters, as in idiopathic retroperitoneal fibrosis. Ultimately, ECD was diagnosed in both patients by the occurrence of both pathognomonic manifestations, the histologic presence of non-Langerhans histiocytes in bone biopsies, and osteosclerotic lesions of the long bones. Because the extraosseous manifestations progressed and a single application of corticosteroids was ineffective, sequential treatment with vinblastine and mycophenolate mofetil, together with prednisolone, was started. At follow-up respectively 15 and 16 months after the start of treatment a beneficial effect was noted in both patients. These cases illustrate the clinical spectrum of ECD, detail the pathognomonic manifestations of this rare disease, emphasize the need to consider ECD as an uncommon but important differential diagnosis in patients with arthralgias or systemic fibrosis, and give the first evidence for a new treatment option.Abbreviations ECD
Erdheim–Chester disease
- MMF
mycophenolate mofetil
- LCH
Langerhans cell histiocytosis 相似文献
8.
Erdheim–Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by tissue infiltration of lipid-laden
macrophages, multinucleated giant cells, and inflammatory infiltrate of lymphocytes and histiocytes. The disease typically
involves long bone, but may also affect the central nervous system, the orbit, retroperitoneal organs, and the lungs. Patients
with visceral involvement tend to have poorer outcome. There is no proven effective treatment for ECD to date. However, recent
data suggested the potential use of bisphosphonates for the treatment of this rare disease. Here we report a case of biopsy-proven
skeletal ECD, who received treatment with zoledronic acid, an aminobisphosphonate, with remarkable clinical improvement. We
also discuss possible mechanisms of action of bisphosphonates in this disorder, especially their roles in inhibition of inflammatory
cytokines and macrophage infiltration. 相似文献
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Duarte Ana Catarina Cordeiro Ana Fernandes Bruno Miguel Bernardes Miguel Martins Patrícia Cordeiro Inês Santiago Tânia Seixas Maria Inês Ribeiro Ana Roxo Santos Maria José 《Clinical rheumatology》2019,38(7):2001-2009
Clinical Rheumatology - To evaluate rituximab (RTX) effectiveness and safety in patients with interstitial lung disease (ILD) related to connective tissue diseases (CTD). Retrospective multicenter... 相似文献
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Shah JS Hughes DA Tayebjee MH MacFadyen RJ Mehta AB Elliott PM 《Journal of inherited metabolic disease》2007,30(1):88-95
Summary
Background: Anderson–Fabry Disease (AFD) is an inherited metabolic disease associated with premature death secondary to cardiovascular
and renal disease. Patients with AFD develop progressive left ventricular (LV) remodelling and heart failure. We hypothesized
that altered extracellular matrix (ECM) turnover contributes to the pathophysiology of cardiac disease in AFD. Methods and Results: Twenty-nine consecutive patients (44.1 ± 11.7 years, 15 male) with AFD and 21 normal controls (39.7 ± 11.3 years, 10 male)
had serum analysed for matrix metalloproteinase-9 (MMP-9), and tissue inhibitor of matrix metalloproteinase-1 and -2 (TIMP-1,
TIMP-2). All patients underwent clinical assessment, echocardiography and Mainz Severity Score Index (MSSI) measurement, a
validated severity score in AFD. MMP-9 levels were significantly higher in patients than controls (1003.8 ± 337.8 ng/ml vs
576.7 ± 276.3 ng/ml respectively, p < 0.001). There were no differences in TIMP levels between patients and controls. There was a positive correlation between
MMP-9 levels and MSSI (r = 0.5, p = 0.01). There was a negative correlation between MMP-9 and endocardial fractional shortening (FS) (r = −0.5, p = 0.01) and mid-wall FS (r = −0.6, p = 0.001). There was no correlation between other echocardiographic parameters and MMP-9 levels. These relations were independent
of age and sex using stepwise linear regression analysis. Conclusions: Patients with AFD have abnormal ECM turnover compared to normal controls. The correlation between MMP-9 levels and systolic
function suggests that altered ECM turnover is important in cardiac remodelling. The association between MMP-9 and overall
disease severity suggests that circulating levels of MMP-9 may provide a useful marker for assessing the response of patients
with AFD to enzyme replacement treatment.
Competing interests: None declared 相似文献
12.
Fabien Forest Anh Tuan N’Guyen Jacques Fesselet Philippe Metellus Corinne Bouvier André Maues de Paula Pierre-Hughes Roche Dominique Figarella-Branger 《Annals of hematology》2014,93(6):937-940
Rosai–Dorfman disease of the central nervous system is extremely rare and difficult to diagnose also for pathologists. We describe three unusual cases of meningeal Rosai–Dorfman disease and illustrate the difficulties of preoperative and pathological diagnosis. We retrospectively analyzed three patients who underwent surgery for a suspected meningioma for whom the final diagnosis was Rosai–Dorfman disease of the central nervous system. Pathological initial diagnosis was schwannoma, lymphoplasmacyte-rich meningioma, or inflammatory tumor, but final diagnosis in all cases was Rosai–Dorfman disease. These cases underline the preoperative and pathological difficulties of such diagnosis. Pathologists and physicians should be aware of the occurrence of such rare localization of this disease and should think about this differential diagnosis in lymphocyte-rich meningeal tumors mimicking, clinically and radiologically, a meningioma. Communication of significant previous medical history to pathologists and careful examination of slides with appropriate medical history and the use of S100 antibody in the diagnosis of meningeal tumors mimicking Rosai–Dorfman disease could lower the rate of misdiagnosis. 相似文献
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Singh YP Agarwal V Krishnani N Misra R 《Modern rheumatology / the Japan Rheumatism Association》2008,18(5):492-495
Histiocytic necrotizing lymphadenitis or Kikuchi–Fujimoto disease (KFD) is a rare, benign and self-limiting disorder that
characteristically presents with fever and cervical lymphadenopathy. Articular manifestations in the form of arthralgias are
common but frank arthritis is distinctly rare and dactylitis has not been reported yet. Herein, we describe a young boy who
presented with arthritis and dactylitis as the initial manifestation of KFD. A 14-year-old boy presented with a two-week history
of fever, generalized lymphadenopathy and asymmetric polyarthritis, enthesitis and dactylitis of the toes. Two years earlier
he presented with arthritis of the knee and ankle joints, which lasted for 12 months. However, he had been asymptomatic for
one year. Investigations revealed anemia, leukopenia and raised acute phase reactants. Work-up for infectious etiology, systemic
lupus erythematosus and leukemia and lymphoma was negative. Excision biopsy of the cervical lymph node confirmed KFD. Fever,
lymphadenopathy and leukopenia dissipated with nonsteroidal anti inflammatory drug therapy, but the arthritis persisted. A
trial of methotrexate led to the resolution of the arthritis. 相似文献
14.
Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes 总被引:12,自引:0,他引:12
C. Whybra Chr. Kampmann I. Willers J. Davies B. Winchester J. Kriegsmann K. Brühl A. Gal S. Bunge M. Beck 《Journal of inherited metabolic disease》2001,24(7):715-724
Anderson–Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal -galactosidase A. Clinical manifestations of Anderson–Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease. 相似文献
15.
《Hematology (Amsterdam, Netherlands)》2013,18(6):324-328
AbstractLegg–Calve–Perthes disease (LCPD) is a self-limited microvascular disorder leading to the occlusion of the femoral blood supply, which results in bone necrosis. Endothelial injury and hemostatic alterations may play a role in the microvascular compromise and decreased blood flow, which occur during the course of LCPD. Global fibrinolytic capacity (GFC) is a novel assay reflecting the overall fibrinolysis response resulting from the dynamic interactions of numerous stimulatory and inhibitory fibrinolytic molecules. Circulating soluble thrombomodulin (TM) reflects endothelial activation and/or injury. It is a cofactor in the clinically important protein C natural anticoagulant system. Beyond the coagulation pathway it is shown to have effects on biological events, especially inflammation. The aim of this study was to determine GFC and TM levels in LCPD patients. The study included 77 children in two groups. Group I consisted of 42 patients with LCPD and Group II (control) comprised 35 healthy children. Median (interquartile ratios) GFC and TM levels were significantly higher in the LCPD patients (Group I) (p<0·0001 and p=0·049, respectively). Circulating high levels of soluble TM may be associated with ongoing endothelial injury or ongoing inflammation during the disease course. Along with increased overall fibrinolytic response, increased TM may be a compensatory reaction to thrombosis. Further investigations are needed to elucidate the endothelial, anticoagulant, and fibrinolytic kinetics associated with the microvascular compromise and self-limiting nature of LCPD. 相似文献
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Esen Kasapoglu Gunal Sevil Kamali Mehmet Fatih Akdogan Arif Oguz Cimen Lale Ocal Mehmet Agan Ahmet Gul Murat Inanc Meral Konice Orhan Aral 《Clinical rheumatology》2009,28(6):733-736
A 17-year-old female patient presented with chronic symmetrical oligoarthritis of both knees and ankles, xerostomia, xerophthalmia, multiple bilateral lymphadenopathies in the cervical region, and bilateral parotid enlargement with the histological finding of chronic sialoadenitis. She had been already given methotrexate, chloroquine, and corticosteroids with the diagnosis of rheumatoid arthritis (RA) before referral to our outpatient clinic. Because her complaints and the lumps did not remit and she could be classified as neither RA nor primary Sjögren’s syndrome (SS) according to 1987 ACR RA criteria or European preliminary criteria for SS, lymph node biopsy was repeated and revealed the diagnosis of Rosai–Dorfman disease (RDD) with the histological findings of histiocytes, phagocyting lymphocytes in enlarged sinuses, and mature plasma cells infiltrating the pulpa. All the medications were stopped after the pathological diagnosis of RDD and consulting with the Division of Hematology. She was reevaluated with magnetic resonance imaging, which showed dense infiltrative areas around knee and ankle joints, and computed tomography that showed a soft tissue mass surrounding the descending aorta and upper part of the abdominal aorta. Activated partial thromboplastin time was found to be prolonged in prebiopsy examinations, and factor XII deficiency was detected after detailed hematological evaluation. The symptoms of joint involvement were relieved with nonsteroidal antiinflammatory drugs. She has been followed-up without medication without obvious clinical or laboratory change. We herein report a patient with RDD mimicking RA and SS. We consider that RDD should be kept in mind especially in patients with resistant symptoms to conventional therapies, younger disease onset, and predominant parotid and lymph node enlargement. 相似文献
18.
Shohei Ogata Yuki Bando Norimitsu Saito Kensei Katsuoka Masahiro Ishii 《Modern rheumatology / the Japan Rheumatism Association》2010,20(3):301-305
We report herein the pathological findings and clinical courses of two cases of Kikuchi–Fujimoto disease (KFD) that developed into autoimmune diseases. The patients are currently undergoing treatment for a disease similar to Sjogren’s syndrome and systemic lupus erythematosus/mixed connective tissue disease. KFD is not an independent condition and most likely develops due to an autoimmune mechanism. Pediatricians should pay careful attention to KFD and encourage long-term follow-up in patients with this condition. 相似文献
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