Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 287
Filtrar
1.
Ann R Coll Surg Engl ; 102(2): e42-e44, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31538800

RESUMO

Erdheim-Chester disease is a rare infiltrative histiocytic disorder with around 800 cases being reported worldwide. Patients most commonly present with skeletal pain, but the condition has been shown to affect multiple other organs. We describe a rare presentation in which the disease infiltrated the sinuses and affected an ex-RAF pilot's vision. After extensive investigation of the elusive diagnosis, repeating of a molecular test using polymerase chain reaction analysis allowed for identification of a mutation (BRAF V600) ultimately leading to the diagnosis of Erdheim-Chester disease.


Assuntos
Cegueira/etiologia , Doença de Erdheim-Chester/diagnóstico , Sinusite/etiologia , Cegueira/terapia , Análise Mutacional de DNA , Diagnóstico Diferencial , Doença de Erdheim-Chester/complicações , Doença de Erdheim-Chester/genética , Doença de Erdheim-Chester/terapia , Osso Etmoide/diagnóstico por imagem , Osso Etmoide/patologia , Osso Etmoide/cirurgia , Glucocorticoides/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Osteotomia , Pilotos , Proteínas Proto-Oncogênicas B-raf/genética , Sinusite/terapia , Osso Esfenoide/diagnóstico por imagem , Osso Esfenoide/patologia , Osso Esfenoide/cirurgia , Tomografia Computadorizada por Raios X
2.
Pan Afr Med J ; 33: 293, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31692902

RESUMO

Erdheim-Chester disease (ECD) is a very rare and aggressive form of non-Langerhans histiocytosis with unclear pathogenesis. Because of the heterogeneity of clinical presentation, diagnosis is often challenging and delayed. Currently, Interferon alpha is the first line treatment that is associated with a better survival. The prognosis is relatively poor, especially in case of neurological and cardiovascular involvement. Herein, we report the case of a 64-year-old Tunisian female patient presenting an aggressive form of ECD revealed by diabetes insipidus and cerebellar ataxia with a diagnosis delay of 4 years. The assessment of disease extent had also shown associated asymptomatic cardiac and bone involvement. Pegylated Interferon alpha was started at high dose allowing disease stabilization. This case illustrates that physicians should be aware of the heterogeneous manifestations of ECD in order to insure an early diagnosis and treatment. Long-term and regular follow-up is crucial because of the risk of disease progression.


Assuntos
Ataxia Cerebelar/etiologia , Diabetes Insípido/etiologia , Doença de Erdheim-Chester/diagnóstico , Diagnóstico Tardio , Doença de Erdheim-Chester/complicações , Doença de Erdheim-Chester/tratamento farmacológico , Feminino , Humanos , Interferon-alfa/administração & dosagem , Pessoa de Meia-Idade , Polietilenoglicóis/química , Prognóstico , Tunísia
3.
Mayo Clin Proc ; 94(10): 2054-2071, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31472931

RESUMO

Histiocytic neoplasms, a rare and heterogeneous group of disorders, primarily include Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease. Due to their diverse clinical manifestations, the greatest challenge posed by these neoplasms is the establishment of a diagnosis, which often leads to a delay in institution of appropriate therapy. Recent insights into their genomic architecture demonstrating mitogen-activated protein kinase/extracellular signal-regulated kinase pathway mutations have now enabled potential treatment with targeted therapies in most patients. This consensus statement represents a joint document from a multidisciplinary group of physicians at Mayo Clinic who specialize in the management of adult histiocytic neoplasms. It consists of evidence- and consensus-based recommendations on when to suspect these neoplasms and what tests to order for the diagnosis and initial evaluation. In addition, it also describes the histopathologic and individual organ manifestations of these neoplasms to help the clinicians in identifying their key features. With uniform guidelines that aid in identifying these neoplasms, we hope to improve the awareness that may lead to their timely and correct diagnosis.


Assuntos
Doença de Erdheim-Chester/diagnóstico , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose Sinusal/diagnóstico , Algoritmos , Técnicas e Procedimentos Diagnósticos/normas , Doença de Erdheim-Chester/terapia , Histiocitose de Células de Langerhans/terapia , Histiocitose Sinusal/terapia , Humanos
5.
Radiología (Madr., Ed. impr.) ; 61(3): 215-224, mayo-jun. 2019. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-185293

RESUMO

Objetivo: Revisar los hallazgos de imagen de las diferentes histiocitosis pulmonares. En concreto, además de la conocida histiocitosis de células de Langerhans relacionada con el tabaco y su posible aparición sin antecedentes de este, la enfermedad de Rosai-Dorfman y la enfermedad de Erdheim-Chester. También se revisa su etiopatogenia, histología, clínica y tratamiento. Conclusión: La histiocitosis de células de Langerhans, la enfermedad de Rosai-Dorfman y la enfermedad de Erdheim-Chester son un conjunto de patologías de causa idiopática en las que la proliferación e infiltración de histiocitos es el hallazgo anatomopatológico diagnóstico. La histiocitosis de células de Langerhans se manifiesta en forma de nódulos y quistes que respetan los ángulos costofrénicos, característicamente en pacientes fumadores. Aunque es poco frecuente, debe pensarse en esta entidad en pacientes no fumadores, en tratamiento quimio y radioterapéutico, con nódulos cavitados de nueva aparición e incluirse en el diagnóstico diferencial junto con la enfermedad metastásica y la infección oportunista. La enfermedad de Rosai-Dorfman y la enfermedad de Erdheim-Chester se presentan con hallazgos torácicos más inespecíficos, como adenopatías, engrosamiento intersticial y derrame pleural. En la enfermedad de Erdheim-Chester, las características manifestaciones extratorácicas suelen ser claves en el diagnóstico


Objective: To review the imaging findings for the different types of pulmonary histiocytosis. In particular, in addition to the well-known pulmonary Langerhans cell histiocytosis related to smoking and its possible appearance in nonsmokers, we focus on non-Langerhans cell histiocytosis in Rosai-Dorfman disease and Erdheim-Chester disease. We also review the etiopathogenesis, histology, clinical presentation, and treatment of pulmonary histiocytosis. Conclusion: Langerhans cell histiocytosis, Rosai-Dorfman disease, and Erdheim-Chester disease are idiopathic diseases in which the proliferation and infiltration of histiocytes is the histologic finding that confirms the diagnosis. Langerhans cell histiocytosis manifests as nodules and cysts that spare the costophrenic angles; it typically appears in smokers. Although it is uncommon in nonsmokers, Langerhans cell histiocytosis should also be considered in nonsmokers treated with chemotherapy and radiotherapy in whom cavitated nodules appear and should be included in the differential diagnosis together with metastatic disease and opportunistic infections. Rosai-Dorfman disease and Erdheim-Chester disease present with less specific thoracic findings such as adenopathies, interstitial thickening, and pleural effusion. In Erdheim-Chester disease, the characteristic extrathoracic manifestations are usually key for the diagnosis


Assuntos
Humanos , Histiocitose/classificação , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose Sinusal/diagnóstico , Doença de Erdheim-Chester/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Imuno-Histoquímica/métodos , Diagnóstico Diferencial , Tabagismo/complicações
8.
Mult Scler Relat Disord ; 30: 94-97, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30743087

RESUMO

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that presents potential impairment of the central nervous system (CNS). Frequent CNS impairment makes ECD a disease worth considering in the differential diagnosis of multiple sclerosis (MS). We report the case of a patient initially diagnosed with relapsing-remitting MS with an atypical course who developed ECD during the disease progression. Given the patient's clinical-radiological characteristics, two diagnostic possibilities were proposed: the coexistence of both diseases or a new presentation of ECD mimicking MS. We conducted a literature review, analyzing the various diagnostic and therapeutic possibilities.


Assuntos
Doença de Erdheim-Chester/diagnóstico , Esclerose Múltipla/diagnóstico , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade
11.
Z Rheumatol ; 78(1): 66-71, 2019 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-30430236

RESUMO

BACKGROUND: During the last 3 years 4 patients were admitted to this hospital with a wide variety of different symptoms, in whom Erdheim-Chester disease (ECD) was diagnosed via different diagnostic pathways. OBJECTIVE: Based on four clinical cases of ECD and using additional information from the literature, this article presents the symptoms of ECD. Furthermore, similarities and differences in comparison to important rheumatological differential diagnoses are presented. RESULTS: The ECD is a multi-organ orphan disease. Typical for the disease are long bone involvement, periarterial inflammation especially of the aorta, retroperitoneal and perirenal fibrosis with so-called hairy kidneys in abdominal computed tomography (CT) scans. Treatment is increasingly directed towards the presence of a BRAF mutation, which enables targeted and effective treatment with BRAF inhibitors. CONCLUSION: The ECD is a rare differential diagnosis to rheumatic diseases that causes various and often nonspecific symptoms. Due to modern diagnostic methods with imaging procedures and biopsies it is possible to establish a precise diagnosis and provide a targeted and effective treatment.


Assuntos
Doença de Erdheim-Chester , Biópsia , Diagnóstico Diferencial , Doença de Erdheim-Chester/diagnóstico , Humanos , Cintilografia , Tomografia Computadorizada por Raios X
12.
Can J Cardiol ; 34(12): 1688.e9-1688.e11, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30527170

RESUMO

Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis and inflammatory myeloid neoplasm with poor prognosis. Symmetric long bone osteosclerosis occurs in nearly all patients, but other organs are often involved. Coronary artery involvement is rare, but was encountered in a patient who experienced angina. Radiologic presentation and histologic findings were consistent with diagnosis of ECD. A soft-tissue mass was found surrounding the right atrium, ascending aorta, and all branches of coronary artery. Interferon-alfa treatment was successful. In conclusion, we recommend coronary artery computed tomography angiography for cardiovascular evaluation of ECD and interferon-alfa to treat ECD.


Assuntos
Vasos Coronários/diagnóstico por imagem , Doença de Erdheim-Chester/diagnóstico , Adulto , Angina Pectoris/etiologia , Angiografia por Tomografia Computadorizada , Doença de Erdheim-Chester/tratamento farmacológico , Átrios do Coração/diagnóstico por imagem , Humanos , Fatores Imunológicos/uso terapêutico , Interferon-alfa/uso terapêutico , Masculino
15.
Diagn Pathol ; 13(1): 94, 2018 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-30474563

RESUMO

BACKGROUND: Erdheim Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis characterized by widespread tissue infiltration by CD68-positive, CD1a-negative foamy histiocytes. ECD can be difficult to identify, and diagnosis relies on the presence of histiocytes with certain histologic and immunophenotypic features in an appropriate clinical and radiologic setting. Clinical signs and symptoms are variable depending on which organ systems are involved. Most patients have at least skeletal involvement with bone pain as well as fatigue. Other common manifestations include diabetes insipidus, cardiac, periaortic, or retro-orbital infiltration/fibrosis, kidney impairment, xanthelasmas, among others. CASE PRESENTATION: Herein, we describe a case of BRAF-mutation positive ECD in a patient with Burkitt lymphoma, and we review recent literature. CONCLUSION: Underlying BRAF and other MAPK pathway mutations are identified in approximately 50% of cases of ECD, which aids in diagnosis as well as enables novel targeted treatments. ECD patients have an increased risk of myeloid neoplasms; however, unlike other histiocytoses, an association with lymphoproliferative disorders has not been recognized.


Assuntos
Linfoma de Burkitt/terapia , Doença de Erdheim-Chester/genética , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Biópsia , Linfoma de Burkitt/complicações , Linfoma de Burkitt/diagnóstico , Análise Mutacional de DNA , Doença de Erdheim-Chester/complicações , Doença de Erdheim-Chester/diagnóstico , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Fenótipo , Valor Preditivo dos Testes
16.
Neurochirurgie ; 64(6): 439-441, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30274919

RESUMO

Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis. It is an inflammatory disorder associated with BRAF V600E mutation in 50% of cases. This multisystem disease is rarely associated with spinal involvement. Neurological involvement is an independent predictive factor of poor prognosis. The diagnosis is histopathological based on CD68-positive and CD1A-negative histiocytes. Treatment with interferon-alpha is an independent predictor of survival in Erdheim-Chester disease and vemurafenib has also been shown to be effective for BRAF V600E mutation. We report a clinical case of a 51-year-old patient with multiple and rare locations of Erdheim-Chester disease, particularly at the sphenoid sinus.


Assuntos
Doença de Erdheim-Chester/genética , Mutação/genética , Proteínas Proto-Oncogênicas B-raf/genética , Compressão da Medula Espinal/genética , Doença de Erdheim-Chester/diagnóstico , Humanos , Interferon-alfa/metabolismo , Pessoa de Meia-Idade , Seio Esfenoidal/cirurgia , Compressão da Medula Espinal/diagnóstico
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA