Cardiac and pleuropulmonary involvement in Erdheim-Chester disease without bone lesions: A case report.
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ABSTRACT:
SUBMITTER: Kanza RE
PROVIDER: S-EPMC8688944 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Erdheim-Chester disease is a type of non-Langerhans cell histiocytosis. It is a rare, multisystem disorder with unknown etiology. Heterogeneity of the clinical symptoms makes the diagnosis challenging. On the other hand, knowing the signs and radiological findings of the disease helps to establish a correct diagnosis. In this article, we present a 51-year-old male patient with skeletal and urinary system manifestations who finally underwent right nephrectomy due to renal insufficiency. The diagnosis was suspected by the retroperitoneal infiltrative process and radiological findings of the tubular bones. Erdheim-Chester disease diagnosis was confirmed with CD68(+) CD1a(-) histiocytes detected by immunohistochemical analysis of the nephrectomy specimen.
| S-EPMC6190995 | biostudies-other
Project description:Erdheim-Chester disease (ECD) is a rare form of systemic histiocytosis, typically presenting with striking osseous involvement characterized by bilateral osteosclerosis and involvement of organs such as the lung, pituitary gland, heart, and brain. Liver involvement with ECD is extremely uncommon. We report a 56-year-old woman presenting with newly diagnosed cirrhosis and signs concerning for intra-abdominal malignancy, including omental caking and peritoneal thickening. Liver biopsy demonstrated xanthogranulomatous infiltration from ECD. The patient showed initial improvement with interferon therapy, but she developed severe depression, which led to the discontinuation of the treatment. Shortly afterward, she died from progressive liver dysfunction resulting in hepatorenal syndrome.
| S-EPMC5541758 | biostudies-other
Project description:With approximately 750 cases reported, Erdheim-Chester disease is an exceedingly rare histiocyte cell disorder. Affected sites typically include long bones, large vessels and central nervous system. However, cutaneous and pulmonary involvement can also occur. The diagnosis is ascertained by identification of foamy histiocytes positive for CD68, CD163, and factor XIIIa on immunoperoxidase staining. Recently published literature have described an association between Erdheim-Chester disease and BRAF V600E mutation. This finding prompted the investigation of therapeutic possibilities with BRAF inhibitors, successful agents against other BRAF mutation-positive diseases. Vemurafenib, a BRAF kinase inhibitor, has been shown to be effective in BRAF V600E mutation-positive malignancies, such as NSCLC and melanoma, as well as in several case reports of Erdheim-Chester disease. We report a case of Erdheim-Chester disease diagnosed at our institution, treated with vemurafenib.
| S-EPMC5153444 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is a rare histiocytosis of the "L" (Langerhans) group with multisystem involvement that can affect the large and medium-sized arteries mimicking vasculitis. Aortic involvement is common but the frequency and outcome of aortic branch vessel abnormalities are less well described.Patients with ECD were retrospectively identified. Images containing information of arterial involvement within 6 months of diagnosis were considered baseline and compared to last follow-up studies. Two physicians independently reviewed the studies to evaluate for presence of abnormalities attributable to ECD. Age and sex-adjusted logistic regression models were used to examine associations between patient characteristics and vessel involvement at baseline.Among a cohort of 64 patients with ECD, 63 had baseline imaging of vascular structures. ECD involvement of at least 1 segment of the aorta was observed in 56%. Abnormalities were also observed in aortic arch branches (26%), visceral branch arteries (40%), iliofemoral arteries (31%), coronary (5%), and pulmonary (3%) arteries. Perinephric fibrosis was strongly associated with the identification of abnormalities in the thoracic aorta (OR 4.92 [1.54, 15.75]; P?=?.007), abdominal aorta (OR 7.57 [2.28, 25.07]; P?=?.001) and visceral branch arteries (OR 6.05 [1.52, 24.03]; P?=?.01) but not pelvic/lower extremity arteries. Complete normalization of arterial abnormalities at follow-up was only observed in 9% or less of arterial segments involved at baseline.Aortic and aortic branch vessel abnormalities are frequently observed in patients with ECD and are often asymptomatic. Partial and/or complete resolution of arterial findings is uncommon.
| S-EPMC6310516 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is a rare systemic disease characterized by non-Langerhans histiocytosis. Pituitary involvement, often manifesting as diabetes insipidus, is the most common central nervous system (CNS) lesion. However, significant mass formation compressing the optic apparatus is rarely reported. We present a case of ECD-related suprasellar mass treated with an endoscopic transnasal approach, with emphasis on the surgical strategy and the intraoperative findings. The mass was fibrous, significantly hard, and strongly adhered to the optic nerves, causing visual impairment. A subtotal resection was performed with preserving the adhesion between the mass and the optic nerves, and her visual symptoms improved remarkably after surgery. We highlight the surgical procedure of ECD-related suprasellar mass, from an endoscopic point of view. Due to strong adhesion of the mass to the surrounding optic apparatus and perforators, complete resection may be harmful; judicious mass reduction with preserving such adhesion would contribute to better visual outcomes.
| S-EPMC8769389 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is an extremely rare and aggressive form of non-Langerhans cell histiocytosis. ECD usually presents with bone pain in adults aged 40-60. Its etiology is unknown but it is thought to be either a reactive or neoplastic disorder. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in more than 50% of cases. The multisystemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum, and skin. Current available treatment is interferon alpha as the first line of treatment. Treatment with other agents is based on anecdotal case reports. Cladribine, anakinra, and vemurafenib (BRAF inhibitor) are currently advocated as promising second-line treatments for patients whose response to interferon alpha is unsatisfactory. Herein, we are reporting a middle-aged Saudi male patient with an aggressive type of ECD and highlighting the clinical, radiological, and pathological manifestations associated with ECD and the various treatment options and patient follow-up.
| S-EPMC5498947 | biostudies-other
Project description:Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by infiltration of organs by CD68+ and CD1a- lipid-laden histiocytes, including the central nervous system in more than a third of patients. Molecular analysis of ECD samples has demonstrated the prevalence of BRAF V600E mutations as high as 54%. Recently, vemurafenib became the only Food and Drug Administration-approved treatment for patients with ECD who carry the BRAF V600E mutation. However, dabrafenib has been suggested to have greater brain distribution. We describe a 44-year-old female patient treated from August of 2015 through November 2017. She presented with a 2-year history of light-headedness, fatigue, and vertigo. She was moderately dysmetric, diffusely hyperreflexic, and dysarthric in the bilateral upper and lower extremities. Her gait was wide-based. She had dysarthria and nystagmus on horizontal gaze bilaterally. Magnetic resonance imaging showed an extensive area of increased T2/fluid-attenuated inversion recovery signal in the brain stem, enhancement in the pons and midbrain, and thickening of the pituitary stalk. Positron emission tomography/computed tomography (PET/CT) and whole-body technetium Tc99m bone scintigraphy showed intense symmetrical radiotracer uptake in the distal femur and tibia bilaterally, which was biopsied. Immunohistochemistry was negative for BRAF V600E, but genomic sequencing revealed the mutation. The patient received combination therapy with dabrafenib and trametinib. Her nystagmus, dysarthria, dysmetria, and gait improved remarkably. Subsequent PET/CT and magnetic resonance imaging showed complete resolution of all radiographic evidence of disease. In this case report, we demonstrate the success of a combination therapy with dabrafenib and trametinib.
| S-EPMC6132217 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is rare non-Langerhans histiocytosis with distinctive radiologic and pathologic entities. We report a rare case of which ECD was involving the breast with only eight similar cases reported in the English literature. Our patient was a 52-year-old female patient with ECD involving the breast, mesentery, left kidney, retroperitoneum and the skeleton. The diagnosis was based on distinctive imaging and histopathological findings. The patient received a new novel treatment as part of a clinical trial in the United States and showed clinical and radiological improvement.
| S-EPMC6148982 | biostudies-literature
Project description:BackgroundErdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that can affect the bones, heart, lungs, brain, and other organs. Cardiovascular involvement is common in ECD and is associated with a poor prognosis. Here, we report a case of ECD presenting as an intracardiac mass and pericardial effusion confirmed by biopsy with sternotomy.Case summaryA 54-year-old man was admitted because of dyspnoea. He was previously diagnosed with bilateral hydronephrosis and retroperitoneal fibrosis. Echocardiography revealed a large amount of pericardial effusion and echogenic mass on the right atrial (RA) side and atrioventricular (AV) groove. Cardiac magnetic resonance imaging and positron emission tomography-computed tomography (CT) revealed infiltrative mass-like lesions in the RA and AV groove. Pericardial window formation and pericardial biopsy were performed, and the pathologic results showed only pericardial fibrosis with no specific findings. Bone scan revealed increased uptake in the long bones. Considering the high probability of ECD based on the patient's manifestations and the imaging findings, we performed a cardiac biopsy with median sternotomy despite initial insufficient pathologic results in the pericardial biopsy. The surgical findings included multiple irregular and firm masses on the cardiac wall and large vessels; after obtaining a large amount of suspicious mass, ECD accompanied with CD68 (+) and BRAF V600E mutation was confirmed.DiscussionErdheim-Chester disease can be associated with various forms of cardiovascular involvement. Considering the multi-systemic manifestations and difficulty in identifying this rare disease, a comprehensive and meticulous diagnostic work-up is crucial.
| S-EPMC8564709 | biostudies-literature
Project description: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.
| S-EPMC6260675 | biostudies-other