ABSTRACT
Resumen | La enfermedad de Erdheim-Chester es una condición extremadamente rara en la edad pediátrica. Se presenta el caso de una niña de 12 años con diagnóstico histológico y radiológico de enfermedad de Erdheim-Chester multisistémica y mutación en el gen BRAF, que requirió tratamiento con dabrafenib. Hasta el momento, se han reportado 22 casos pediátricos en el mundo y este es el segundo en Latinoamérica. Se observó el hallazgo radiológico denominado signo oscuro paraselar, descrito hasta ahora en pacientes con hipofisitis autoinmunitaria para diferenciarlos de aquellos con adenomas hipofisarios. Este reporte contribuye a la literatura médica en dos aspectos fundamentales: las manifestaciones clínicas de la enfermedad y su diagnóstico en la población pediátrica.
Abstract | The Erdheim-Chester's disease is extremely rare in children. We present the case of a 12-year-old girl with histological and radiological diagnosis of this disease and mutation of the BRAF gene, who developed multisystemic compromise requiring treatment with dabrafenib. We identified 22 reports of this condition among children worldwide and this is the second pediatric case in Latin America. Diagnostic imaging is critical to confirm Erdheim-Chester disease and for the surgical planning of the biopsy. Additionally, we identified the parasellar dark sign, which has previously been reported on lymphocytic hypophysitis. This report contributes to the current practice as it shows the clinical presentation and the diagnostic workout of this disease in pediatrics.
Subject(s)
Pediatrics , Erdheim-Chester Disease , Magnetic Resonance Imaging , Histiocytosis , Proto-Oncogene Proteins B-rafABSTRACT
Introducción. La enfermedad de Erdheim Chester es un trastorno infrecuente, de etiología no clara y edad de presentación variable, que se caracteriza por la proliferación anormal de histiocitos no Langerhans. Puede presentarse de forma asintomática, con manifestaciones locales o como complicaciones sistémicas. El diagnóstico se basa en las condiciones clínicas del paciente, estudios imagenológicos y el estudio anatomopatológico, mediante el cual se confirma la enfermedad. Caso clínico. Paciente masculino con una lesión lítica en el séptimo arco costal, inicialmente asintomático y posteriormente con dolor torácico persistente. Se realizó resección y reconstrucción de la pared torácica, con resolución de la sintomatología y adecuada evolución posoperatoria. El resultado de la patología confirmó el diagnóstico de enfermedad de Erdheim Chester. Discusión. Se presenta el caso de un paciente con compromiso costal y fractura patológica como localización y manifestación inusual de la enfermedad de Erdheim Chester, tratado quirúrgicamente de forma adecuada, y sin aparición de recidiva. Debido a la diversidad de síntomas que pueden presentar y a la afectación de múltiples órganos, además de los estudios imagenológicos, la clínica debe orientar los exámenes complementarios, como electro o ecocardiograma, resonancia nuclear magnética, o angioTAC. En los pacientes asintomáticos se ha recomendado un manejo expectante y en los sintomáticos el tratamiento médico con glucocorticoides, inhibidores de BRAF e interferón alfa. El papel de la cirugía no ha sido estudiado a profundidad
Introduction. Erdheim Chester disease is a rare disorder of unclear etiology and variable age of presentation, characterized by abnormal proliferation of non-Langerhans histiocytes. It can present asymptomatic, with local manifestations or as systemic complications. The diagnosis is based on the clinical conditions of the patient, imaging studies, and the pathological study, through which the disease is confirmed.Clinical case. A male patient with a lytic lesion in the seventh costal arch, initially asymptomatic and later with persistent chest pain, underwent resection and reconstruction of the chest wall, with resolution of the symptoms and adequate postoperative evolution. The pathology report confirmed the diagnosis of Erdheim Chester's disease.Discussion. The case of a patient with rib involvement and pathological fracture is presented as an unusual location and manifestation of Erdheim Chester's disease, treated surgically appropriately, and without recurrence. Due to the diversity of symptoms that they can present and the involvement of multiple organs, in addition to imaging studies, the clinic should direct complementary tests such as electrocardiogram or echocardiogram, magnetic resonance imaging, or CT angiography. Expectant management has been recommended in asymptomatic patients, and medical treatment with glucocorticoids, BRAF inhibitors, and interferon alfa in symptomatic patients. The role of surgery has not been studied in depth
Subject(s)
Humans , Erdheim-Chester Disease , Fractures, Spontaneous , Therapeutics , Bone and Bones , Chest Pain , Rib CageABSTRACT
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-old male who presented to the emergency department with neck pain, headache and vomiting for 2 months; MRI showed multiple heterogeneous intracranial masses. Neurosurgery performed a suboccipital craniotomy, partially resected the cerebellar mass, and placed a parietal to frontal shunt catheter. Biopsy results from the cerebellar mass demonstrated cerebellar tissue involved by a diffuse proliferation of foamy histiocytes and spindle cells admixed with prominent lymphoplasmacytic infiltrate and positive for CD68, CD163, Factor XIIIa and Fascin. PET scan showed hypermetabolic uptake within the medullary portions of the diffuse abnormal lesions of the distal femurs, tibias, and fibulas, and cardiac MRI was nonsignificant. The patient was started on vemurafenib and continued to show improvement in a 3-month outpatient follow-up.
Subject(s)
Humans , Male , Adult , Erdheim-Chester Disease/pathology , NeurosurgeryABSTRACT
Se comunica una serie de casos, multicéntricos de la cual participaron cinco instituciones. La muestra fue de 17 pacientes, de los cuales 11 pertenecían al Hospital Dr. J.M. Cullen. Todos consultaron por compromiso orbitario y/o periorbitario. El compromiso en hombres fue de 23.4% y un 76.6% en mujeres. La edad media en años fue de 45.4 (17-69 años). Dentro de los diagnósticos encontrados, cinco casos fueron Enfermedad Relacionada con IgG4 (ER-IgG4), dos casos de Enfermedad de Erdheim Chester (EEC), dos Xantogranuloma, dos xantelasmas, un caso de metástasis de cáncer de mama, un caso de orbitopatía tiroidea, un caso de Amiloidosis con mieloma múltiple, y tres sin diagnóstico. Se revisan los diagnósticos diferenciales encontrados.
A series of multicentric cases is reported, of which five institutions participated. The sample was of 17 patients, of which 11 belonged to our Hospital, the Dr. J.M. Cullen Hospital. All consulted for orbital and/or periorbital commitment. The commitment in men was 23.4% and 76.6% in women. The average age in years was 45.4 (17-69 years). Among the diagnoses found, five cases were IgG4-Related Disease, two cases of Erdheim Chester Disease, two Xantogranuloma, two xanthelasmas, a case of breast cancer metastases, a case of thyroid orbitopathy, a case of Amyloidosis with multiple myeloma, and three without diagnosis. Differential diagnoses found are reviewed.
Subject(s)
Eye , Erdheim-Chester Disease , Graves Ophthalmopathy , Immunoglobulin G4-Related Disease , AmyloidosisABSTRACT
La enfermedad de Erdheim-Chester (EEC) es una histiocitosis de células no Langerhans de presentación proteiforme y escaso conocimiento. Se presenta una serie de 19 casos de 4 centros, registrados de junio de 2012 a junio de 2019. Se incluyeron aquellos pacientes con clínica, anatomía patológica e inmunohistoquímica característica de la enfermedad. Se excluyeron pacientes con hallazgos indefinidos. Resultados: al igual que en la literatura, el compromiso más frecuente fue el óseo por imagenología, la mitad de estos sintomático. Nuestra serie presenta mayor incidencia de mujeres (casi 70%). Siete pacientes presentaron nódulo mamario como forma de presentación. La mayoría recibieron dosis media de esteroides asociado a otra droga inmunosupresora. La mortalidad fue del 16%. Conclusión: comunicamos una serie de pacientes con la EEC mencionando las características más destacables. Es llamativo el número de pacientes con afectación mamaria, por lo cual proponemos téngase en cuenta en el diagnóstico diferencial de la patología tumoral mamaria.
Erdheim-Chester disease (ECD) is a non-Langerhans histiocytosis, protein manifestations at start and little known. We included 19 patients from June 2012 to June of 2019. Inclusion criteria: clinical features, histopathology and immunostaining compatible with ECD. We excluded patients with undefined features. Results: Bones were the most frequent affected, half of them were asymptomatic. Seventy per cent of the patients were women, and 7 of them developed a nodule breast as first manifestation of ECD. The patients were treated with corticosteroids associated or not with immunosuppressants. The mortality rate was 16%. Conclusion: We reported a series of patients with ECD, enhancing the most frequent features. It is striking the number of patients with breast involvement; we propose to include the Erdheim-Chester disease in differential diagnosis of breast tumor.
Subject(s)
Humans , Erdheim-Chester Disease , Giant Cells , Histiocytosis , MacrophagesABSTRACT
Abstract Erdheim-Chester Disease is a rare entity, classified as an inflammatory myeloid neoplasm, with an unknown incidence, occurring preferentially in men after 50 years of age. Classically, it has a multisystemic presentation, with the skeletal system being the most frequently affected (90% of the patients), followed by genitourinary involvement in 60% of cases and central nervous system in the pituitary and diabetes insipidus in 25% of the cases. Cardiovascular manifestations are present in more than half of the patients, with aortic infiltration and atrial pseudotumor being the most common forms.
Resumo A doença de Erdheim-Chester é uma entidade rara classificada como neoplasia mielóide inflamatória, com incidência desconhecida que ocorre preferencialmente em homens após os 50 anos de idade. Classicamente apresenta-se de forma multissistêmica, sendo sistema esquelético o mais frequentemente comprometido (90% dos pacientes), seguido do sistema geniturinário em 60% dos casos e sistema nervoso central em hipófise e diabetes insipidus em 25% dos casos. As manifestações cardiovasculares estão presentes em mais da metade dos pacientes, sendo a infiltração da aorta e o pseudotumor atrial as formas mais encontradas.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Erdheim-Chester Disease/diagnostic imaging , Heart Diseases/diagnostic imaging , Biopsy , Magnetic Resonance Imaging , Erdheim-Chester Disease/complications , Erdheim-Chester Disease/pathology , Positron-Emission Tomography , Heart Diseases/complications , Heart Diseases/pathologyABSTRACT
Sinus histiocytosis with massive lymphadenopathy, generally known by the name of Rosai-Dorfman disease is a rare benign condition principally affecting cervical lymph nodes. Concurrent extra-nodal disease frequently occurs, however, solitary extra-nodal disease involving the mandible is exceedingly rare with less than five reported cases in the English literature. We describe a case of primary involvement of the mandible in a 27-year-old female, and discuss the differential diagnosis of this disease with other histiocytic lesions.
Subject(s)
Humans , Female , Adult , Histiocytosis, Sinus/diagnosis , Mandible/pathology , Diagnosis, Differential , Erdheim-Chester Disease , Histiocytosis, Langerhans-Cell , Histiocytosis, Sinus/complications , Rare DiseasesABSTRACT
Erdheim-Chester disease (ECD) is a form of non–Langerhans cell histiocytosis that most commonly involves the skeletal system. We report an unusual case of ECD presenting as an anterior mediastinal tumor without skeletal involvement. A 60-year-old man with no remarkable medical history was referred for evaluation of a mediastinal mass. The patient underwent surgical excision of the tumor via video-assisted thoracoscopic surgery. Histologic examination revealed marked proliferation of atypical histiocytes with sclerosis, and the results of immunohistochemical staining were suggestive of ECD.
Subject(s)
Humans , Middle Aged , Erdheim-Chester Disease , Histiocytes , Histiocytosis , Mediastinum , Sclerosis , Thoracic Surgery, Video-AssistedABSTRACT
Erdheim-Chester disease (ECD) is a rare non-Langerhan's cell histiocytosis disorder characterized by replacement of normal tissue by lipid-laden histiocytes affecting various organs. A few pediatric cases have been reported worldwide. Here we present a child with leukemia who was diagnosed as ECD. A 2-year and 11-month old boy diagnosed with high risk acute lymphoblastic leukemia (ALL) at the age of 17 months, received allogeneic hematopoietic stem cell transplantation (HSCT) at the age of 2 years old. Six months after the transplantation, the patient was admitted to the hospital with palpable left calf nodules. Bone marrow study suggested ECD without leukemia with complete chimerism status. Excisional biopsy of the left calf nodule showed ‘aggregation of non-Langerhan's cell type epitheloid histiocytes’; clinically suggestive of ECD. The patient was started on vinblastine and corticosteroid treatment.
Subject(s)
Child , Humans , Male , Biopsy , Bone Marrow , Chimerism , Erdheim-Chester Disease , Hematopoietic Stem Cell Transplantation , Histiocytes , Histiocytosis , Leukemia , Precursor Cell Lymphoblastic Leukemia-Lymphoma , VinblastineABSTRACT
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis and multisystem disease. First described in 1930, there are no more than 750 cases reported. The etiology remains unknown, but a majority of cases of ECD and Langerhans cell histiocytosis were found to have clonal mutations involving genes of the mitogen-activated protein kinase pathway. We recently encountered a 53-year-old male patient with extensive ECD involving the systemic lymph nodes, pleura, liver, and long bones clinically mimicking malignant lymphoma. Biopsies were performed at multiple sites, including a pleural mass, an external iliac lymph node, bone marrow, and the liver. Based on histopathological and immunohistochemical findings of positivity for CD68 and negativity for CD1a and S-100, the patient was diagnosed with ECD. Interferon-α was administered as the first-line treatment, but the patient rapidly progressed to hepatic failure after 2 months of treatment. We report this rare case of ECD clinically mimicking malignant lymphoma and diagnosed by careful pathological review.
Subject(s)
Humans , Male , Middle Aged , Biopsy , Bone Marrow , Erdheim-Chester Disease , Histiocytosis , Histiocytosis, Langerhans-Cell , Liver Failure , Liver , Lymph Nodes , Lymphoma , Pleura , Protein Kinases , SpineABSTRACT
Resumen La enfermedad de Erdheim-Chester es una histiocitosis celular diferente a la histiocitosis de Langerhans, de origen incierto. Se caracteriza por una implicación multi-orgánica debida a la infiltración de los histiocitos CD68+/CD1a-, en forma de xantogranulomas, que afectan principal y comúnmente a la metáfisis y diáfisis de huesos largos. El diagnóstico se realiza mediante biopsia, donde se revelan histiocitos CD68+/CD1a-, carencia de proteína S, y presencia de gránulos de Birbeck. Se ha subestimado la implicación cardiovascular. Reportamos un caso de un varón de 67 años con la enfermedad de Erdheim-Chester e infarto de miocardio agudo, debido a implicación coronaria, además de enfermedad ósea, vascular, pituitaria y retroperitoneal. Revisamos la literatura relevante y describimos el tratamiento clínico de estos pacientes.
Abstract Erdheim-Chester disease is a non-Langerhans cell histiocytosis of uncertain origin. It is characterized by multiorgan involvement due to infiltration of CD68+/CD1a- histiocytes, in the form of xantogranulomas, most commonly affecting the metaphysis and diaphysis of long bones. The diagnosis is made by biopsy showing CD68+/CD1ahistiocytes, lack of S protein and Birbeck granules. Cardiovascular involvement is underestimated. We report a case of a 67 year-old man with Erdheim-Chester disease and acute myocardial infarction due to coronary involvement, in addition to bone, vascular, pituitary and retroperitoneal disease. We review relevant literature and describe the clinical management of these patients.
Subject(s)
Aged , Coronary Disease/drug therapy , Angiography , Pathogenesis, Homeopathic , Erdheim-Chester DiseaseABSTRACT
Erdheim-Chester disease (ECD) is a rare form of proliferative non-Langerhans cell histiocytosis that involves multiple organs and is associated with a high mortality. The prognosis of ECD is variable, and it mainly depends on the involved anatomic sites. The treatment modalities have not been standardized, but interferon-α (IFN-α) has been reported to be effective in the management of ECD. ECD usually affects middle aged individuals with a slight male predominance but is extremely rare in children. We present an uncommon case of a 4-year-boy diagnosed with ECD who was treated with IFN-α and corticosteroid. He remained disease-free for 3 years after the completion of treatment.
Subject(s)
Child , Child, Preschool , Humans , Male , Middle Aged , Erdheim-Chester Disease , Histiocytosis , Mortality , PrognosisABSTRACT
Histiocytosis is an uncommon disease characterized by excessive accumulation of histiocytes. Here, we report a rare case of non-Langerhans-cell histiocytosis in a 51-year-old woman who presented with severe symptoms of pericardial effusion. Radiologic investigation also detected multiple bone (lower limbs, vertebrae, ribs, and ilium) lesions. Resected pericardium showed abundant mono- or multi-nucleated non-foamy histiocytes (CD68⁺/CD163⁺/S-100⁺/CD1α⁻/langerin⁻) in a fibroinflammatory background. The histiocytes demonstrated emperipolesis of lymphocytes, a hallmark feature of Rosai-Dorfman disease (RDD). However, molecular analysis revealed a BRAF V600E mutation of the proliferating histiocytes, highlighting the neoplastic features frequently observed in another non-Langerhans-cell histiocytosis known as Erdheim-Chester Disease (ECD). We consider this case to be a unique presentation of ECD harboring some RDD-like cells with emperipolesis, but not a case of RDD with a BRAF mutation concerning its clinical manifestation (involvement of the heart and bones) and neoplastic features.
Subject(s)
Female , Humans , Middle Aged , Emperipolesis , Erdheim-Chester Disease , Extremities , Heart , Histiocytes , Histiocytosis , Histiocytosis, Non-Langerhans-Cell , Histiocytosis, Sinus , Lymphocytes , Pericardial Effusion , Pericardium , Ribs , SpineABSTRACT
Erdheim-Chester disease (ECD) is a rare form of proliferative non-Langerhans cell histiocytosis that involves multiple organs and is associated with a high mortality. The prognosis of ECD is variable, and it mainly depends on the involved anatomic sites. The treatment modalities have not been standardized, but interferon-α (IFN-α) has been reported to be effective in the management of ECD. ECD usually affects middle aged individuals with a slight male predominance but is extremely rare in children. We present an uncommon case of a 4-year-boy diagnosed with ECD who was treated with IFN-α and corticosteroid. He remained disease-free for 3 years after the completion of treatment.
Subject(s)
Child , Child, Preschool , Humans , Male , Middle Aged , Erdheim-Chester Disease , Histiocytosis , Mortality , PrognosisABSTRACT
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic disorder. We report a 76-years-old man who suffered a cardiac tamponade secondary to ECD. A pericardial window was made and during the operation the surgeons observed that the myocardium was diffusely infiltrated. Twenty-eight months before, ECD was clinically diagnosed and prednisone and methotrexate were prescribed. Due to disease progression which culminated in the cardiac tamponade, methotrexate was changed to sirolimus aiming to obtain plasma levels between 5-8 ng/ml. This treatment stabilized his cardiac function allowing a survival of 52 months after its initiation, with fewer side effects.
Subject(s)
Humans , Male , Aged , Prednisone/therapeutic use , Cardiac Tamponade/etiology , Sirolimus/therapeutic use , Erdheim-Chester Disease/complications , Erdheim-Chester Disease/drug therapy , Anti-Inflammatory Agents/therapeutic use , Cardiac Tamponade/diagnostic imaging , Methotrexate/therapeutic use , Treatment Outcome , Disease-Free Survival , Immunosuppressive Agents/therapeutic useABSTRACT
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with multi-organ involvement. Bones, cardiovascular system, central nervous system, kidney, skin and many different organs can be involved but laryngeal involvement has not been reported in literatures. The diagnosis of ECD was based on clinical manifestations and immunohistochemical findings including CD68(+), CD1a(-) and S100(-). Currently, Interferon-a is the most extensively studied agent in the treatment of ECD and serves as the 1st line of treatment. Surgical resection of involved lesions can be tried but it leads to temporary improvement. A 60-year-old man visited with respiratory symptoms because of ECD with laryngeal involvement. We resected the obstructive lesion to relieve the symptoms. Tissue biopsy gave a diagnosis of ECD. As it is rare to encounter ECD involving the larynx, we report this case with a review of literatures.
Subject(s)
Humans , Middle Aged , Biopsy , Cardiovascular System , Central Nervous System , Diagnosis , Epiglottis , Erdheim-Chester Disease , Histiocytosis , Kidney , Larynx , SkinABSTRACT
Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. The etiology of ECD is unknown yet. The disease is characterized by the infiltration of lipid-laden histiocytes with foamy to bones and various organs. The heterogeneous manifestations of ECD vary among different individuals. This results in a presentation that may vary from an indolent focal disease to a life threatening organ failure. This review focuses on the etiology, clinical presentation, diagnostic criteria and treatment of Erdheim-Chester disease (ECD).
Subject(s)
Humans , Erdheim-Chester DiseaseABSTRACT
Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis with bone and organ involvement. A 76-year-old man presented with low back pain and a history of visits for exertional dyspnea. We diagnosed him with anemia of chronic disease, cytopenia related to chronic illness, chronic renal failure due to hypertension, and hypothyroidism. However, we could not determine a definite cause or explanation for the cytopenia. Multiple osteosclerotic axial skeleton lesions and axillary lymph node enlargement were detected by computed tomography. Bone marrow biopsy revealed histiocytic infiltration, which was CD68-positive and CD1a-negative. This report describes an unusual presentation of Erdheim-Chester disease involving the bone marrow, axial skeleton, and lymph nodes.