ABSTRACT
Fundamento y objetivo: La enfermedad de Erdheim-Chester (EC) es una histiocitosis de células no-Langerhans que cursa con infiltración xantogranulomatosa multiorgánica por histiocitos CD68+/CD1a-. Se recogen las principales características de 12 pacientes diagnosticados de esta rara enfermedad. Pacientes y método: Se revisaron las historias clínicas y los hallazgos anatomopatológicos de 12 casos diagnosticados de enfermedad de EC en 7 hospitales terciarios de la península. Se consideró el diagnóstico de esta enfermedad ante un cuadro clínico compatible e infiltración tisular por histiocitos CD68+/CD1a-. Resultados: Se incluyó en el estudio a 12 pacientes, 7 varones, con una mediana de seguimiento de 36 meses (rango IQ: 20-84). La mediana de edad al inicio clínico de la enfermedad y en el momento del diagnóstico histológico fue de 49 (rango IQ: 28-61) y 56 años (37-62), respectivamente. En 6 casos se realizaron múltiples biopsias para poder llegar al diagnóstico, mientras que en 3 fue la revisión de las mismas piezas anatomopatológicas en un adecuado contexto de sospecha clínica lo que permitió el diagnóstico. Las manifestaciones neurológicas presentaron una asociación estadísticamente significativa con la mortalidad (p<0,05). La característica afectación ósea en forma de osteoesclerosis metadiafisaria de huesos largos se detectó en 9 casos. Conclusiones: La enfermedad de EC presenta una gran heterogeneidad en sus manifestaciones clínicas. Es preciso un alto índice de sospecha y una estrecha colaboración entre clínicos y patólogos para llegar al diagnóstico de esta enfermedad (AU)
Background and objective: Erdheim-Chester disease (EC) is a rare form of non-Langerhans cell histiocytosis. It is characterized by the xanthomatous infiltration of tissues with foamy CD68+/CD1a- histiocytes. We report a series of 12 patients diagnosed with EC.Patients and methods: We reviewed the clinical, pathological and therapeutic aspects of 12 cases diagnosed with EC at 7 tertiary teaching hospitals in Spain. Patients were included if tissue infiltration by histiocytes CD68+/CD1a- could be demonstrated in an appropriate clinical setting. Results: Twelve patients (7 male) were included. Median follow-up was 36 months (IQR: 20-84). The median age at the time of clinical onset and pathological diagnosis was 49 (IQR: 28-61) and 56 years (IQR: 37-62), respectively. In 6 cases multiples biopsies were performed (skin, muscle, testicular) previous to diagnosis, which was confirmed in 3 cases after a carefully review of pathological tissues. Neurological involvement was independently associated with mortality (P<.05). Characteristic long bone osteosclerosis was detected in 9 patients. Conclusion: EC is a multisystemic and heterogeneous clinicopathological condition. A high index of suspicion and fluent communication between clinicians and pathologists is necessary to achieve a correct diagnosis (AU)
Subject(s)
Humans , Male , Female , Erdheim-Chester Disease/epidemiology , Rare Diseases/epidemiology , Retrospective Studies , Retroperitoneal Fibrosis/pathology , Pituitary Diseases/etiology , Osteosclerosis/etiology , Orchitis/etiologyABSTRACT
BACKGROUND AND OBJECTIVE: Erdheim-Chester disease (EC) is a rare form of non-Langerhans' cell histiocytosis. It is characterized by the xanthomatous infiltration of tissues with foamy CD68+/CD1a- histiocytes. We report a series of 12 patients diagnosed with EC. PATIENTS AND METHODS: We reviewed the clinical, pathological and therapeutic aspects of 12 cases diagnosed with EC at 7 tertiary teaching hospitals in Spain. Patients were included if tissue infiltration by histiocytes CD68+/CD1a- could be demonstrated in an appropriate clinical setting. RESULTS: Twelve patients (7 male) were included. Median follow-up was 36 months (IQR: 20-84). The median age at the time of clinical onset and pathological diagnosis was 49 (IQR: 28-61) and 56 years (IQR: 37-62), respectively. In 6 cases multiples biopsies were performed (skin, muscle, testicular) previous to diagnosis, which was confirmed in 3 cases after a carefully review of pathological tissues. Neurological involvement was independently associated with mortality (P<.05). Characteristic long bone osteosclerosis was detected in 9 patients. CONCLUSION: EC is a multisystemic and heterogeneous clinicopathological condition. A high index of suspicion and fluent communication between clinicians and pathologists is necessary to achieve a correct diagnosis.
Subject(s)
Erdheim-Chester Disease/diagnosis , Adult , Aged , Aged, 80 and over , Delayed Diagnosis , Diagnostic Errors , Erdheim-Chester Disease/drug therapy , Erdheim-Chester Disease/mortality , Female , Follow-Up Studies , Glucocorticoids/therapeutic use , Humans , Immunosuppressive Agents/therapeutic use , Male , Middle Aged , Prognosis , Retrospective StudiesABSTRACT
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Subject(s)
Humans , Trigeminal Neuralgia/complications , Sarcoidosis/complications , Nervous System DiseasesABSTRACT
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Subject(s)
Humans , Female , Adult , Fatigue Syndrome, Chronic/diagnosis , Motor Activity/physiology , Diagnosis, DifferentialABSTRACT
OBJECTIVE: To determine the value of whole-body [(18)F] fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) for diagnosing occult malignant disease in patients with myositis compared with broad conventional cancer screening. METHODS: We prospectively studied 55 consecutive patients with a recent diagnosis of myositis in 3 teaching hospitals over a 3-year period by whole-body FDG-PET/CT and compared the results with those of conventional cancer screening, which included thoracoabdominal CT, mammography, gynecologic examination, ultrasonography, and tumor marker analysis. Comparisons were made using predictive values and their 95% confidence intervals. RESULTS: A total of 9 of 55 patients were diagnosed with paraneoplastic myositis. FDG uptake was positive in 7 patients (1 false-positive), negative in 44 patients (3 false-negative), and inconclusive in 4 patients. Positive and negative predictive values of FDG-PET/CT for the diagnosis of cancer were 85.7% and 93.8%, respectively. Conventional screening was cancer-positive in 9 patients (2 false-positive) and negative in the remaining 46 patients (2 false-negative). Positive and negative predictive values were 77.8% and 95.7%, respectively. The overall predictive value of broad conventional screening was the same as that of FDG-PET/CT (92.7 vs 92.7). CONCLUSION: The performance of FDG-PET/CT, a single imaging study, for diagnosing occult malignant disease in patients with myositis was comparable to that of broad conventional screening, which includes multiple tests.
Subject(s)
Dermatomyositis/diagnosis , Mass Screening/methods , Paraneoplastic Syndromes/diagnosis , Polymyositis/diagnosis , Aged , Dermatomyositis/complications , Dermatomyositis/epidemiology , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Incidence , Male , Mammography , Middle Aged , Paraneoplastic Syndromes/complications , Paraneoplastic Syndromes/epidemiology , Polymyositis/complications , Polymyositis/epidemiology , Positron-Emission Tomography , Predictive Value of Tests , Prospective Studies , Spain/epidemiology , Tomography, X-Ray ComputedSubject(s)
Immunosuppressive Agents/adverse effects , Meningitis, Cryptococcal/etiology , Opportunistic Infections/etiology , Aged, 80 and over , Disease Susceptibility , Female , HIV Seronegativity , Humans , Immunocompromised Host , Immunosuppressive Agents/therapeutic use , Liver Transplantation , Male , Meningitis, Cryptococcal/cerebrospinal fluid , Meningitis, Cryptococcal/diagnosis , Middle Aged , Mycophenolic Acid/administration & dosage , Mycophenolic Acid/adverse effects , Mycophenolic Acid/analogs & derivatives , Mycophenolic Acid/therapeutic use , Opportunistic Infections/cerebrospinal fluid , Opportunistic Infections/diagnosis , Polyarteritis Nodosa/complications , Polyarteritis Nodosa/drug therapy , Postoperative Complications/etiology , Prednisone/administration & dosage , Prednisone/adverse effects , Prednisone/therapeutic useABSTRACT
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