[Erdheim-Chester disease diagnosed with right atrium tumors].

Erdheim-Chester disease (ECD) is a very rare form of the non-Langerhans histiocytic multisystem disorder. The cardiac involvement is often challenging and is associated with poor prognosis. Transthoracic echocardiography was used to detect right atrium tumors in a 62-year-old man with heart failure who was admitted to our hospital. The circumferential soft tissue sheathing of the aorta (coated aorta) and fat infiltration around the kidneys (hairy kidneys) was seen on a contrast-enhanced computed tomography strongly suspecting ECD imaging. The patient was diagnosed with ECD based on histopathology reports of the surgical resection tumor. The characteristic imaging findings of ECD may contribute to an early and accurate diagnosis.

[Erdheim-Chester disease : An important differential diagnosis and its main symptoms]. / Morbus Erdheim-Chester : Eine wichtige Differenzialdiagnose und ihre Leitsymptome.

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.

Association between Ischemic Stroke and Erdheim-Chester Disease: A Case Report and Review of Literature.

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by a xanthogranulomatous infiltration of tissues by spumous histiocytes. Neurological involvement is frequent, but ischemic strokes have been exceptionally described. We report the case of a 68-year-old woman who presented with an acute ischemic stroke associated with a multisystemic disorder including insipidus diabetes, infiltration of the aorta and the carotid arteries, perirenal infiltration, aortitis, and lytic bone lesions. The surgical biopsy of a lumbar vertebra revealed an infiltration of spumous macrophages consistent with ECD. Many ischemic symptoms can occur in ECD. Ischemic strokes, infrequently reported, might be caused by perivascular infiltration and adventitial fibrosis of the supra-aortic trunks or intracranial arteries.

A rare case of Erdheim Chester disease.

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. There are few documented cases in the medical literature. Here, we present an infrequent case of a 53-year-old patient who presented with cutaneous xanthelasma and a gradual decline in general health characterized by asthenia, anorexia, and chronic dyspnea over the last 5 years. Chest, abdominal, and pelvic CT scans revealed distinct findings suggestive of ECD, including peri-renal fat infiltration resulting in the "hairy kidney" sign, hepatosplenomegaly, renal artery ostial stenosis, pneumopericardium thickening, interstitial lung parenchymal involvement, metaphyseal-diaphyseal osteosclerosis affecting long bones, and sinus osteosclerosis. A biopsy confirmed the diagnosis. This case highlights the importance of radiologists being familiar with the characteristic radiologic signs of ECD to avoid unnecessary repeat examinations, delays in diagnosis, or misdiagnosis.

Beware of the Coated Aorta in Fluorodeoxyglucose Positron Emission Tomography-Computed Tomography: A Specific Clue to the Diagnosis of Erdheim-Chester Disease in a Case of Brain and Orbital Lesions with Unknown Primary.

Erdheim-Chester disease (ECD) is a systemic histiocytosis that can involve several organs, with severity ranging from occult to life-threatening. The disease was first described by William Chester in 1930 after working with the Austrian pathologist Jakob Erdheim. Even today, a correct diagnosis of ECD often takes years, given the rarity and variable manifestations of ECD. We present a case of a 63-year-old female presenting with multiple brain lesions, sent for fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography to find primary, and it showed hypermetabolic right occipital brain lesion, right orbital lesion, and soft tissue around the arch of the aorta (coated aorta), and final histopathology of the brain lesion confirmed histiocytosis ECD.

Rare presentation of multiple thromboses in Erdheim-Chester disease: a case-based review.

BACKGROUND: ECD is a rare non-Langerhans cell histiocytosis with diverse and heterogeneous clinical manifestations, ranging from single-lesion forms to multi-system involvement, including slowly progressing unifocal forms to rapidly evolving life-threatening disease. CASE PRESENTATION: A female patient presented with a 2-month history of fever. Imaging revealed multiple thromboses, bone destruction, an abnormal pituitary stalk, and clinical manifestations of diabetes insipidus. Excisional biopsy of a tibial lesion was sent for microscopic examination, and subsequent immunohistochemical testing was positive for expression of CD68 and CD163, and negative for expression of the immune markers CD1a, S100, and langerin. This confirmed the diagnosis of ECD. Treatment with methylprednisolone to inhibit the immune inflammatory response along with anti-cytokine therapy with an interleukin-6 antagonist resulted in satisfactory disease control. CONCLUSION: We report a rare case of multiple thromboses, embolism, and multiple organ involvement as the main presentation of ECD, suggesting that ECD should be considered in patients presenting with multiple thromboses associated with multisystem damage. We successfully treated our patient with glucocorticoids and interleukin-6 antagonist. This patient's response to treatment suggests that hormone therapy and cytokine/chemokine therapy may be a potential novel treatment for patients with ECD without gene mutations.

Erdheim-Chester disease: Typical radiologic findings of a multisystemic disease.

Erdheim-Chester disease is a rare and multisystemic entity. It results from the infiltration of tissues by foamy histiocytes. The etiology is unknown, but there are mutations in the MAPK pathway in over 80% of patients, more frequently BRAF mutation. The most commonly affected organs and systems are the skeleton, central nervous system, cardiovascular system, kidney, lungs, and skin. The most common clinical manifestations are bone pain, usually in the lower limbs, and diabetes insipidus. The diagnosis is challenging. It requires a combination of clinical, radiological, histopathological, and molecular findings. We present the case of a patient with typical clinical and radiological manifestations: bone pain and diabetes insipidus at presentation, bilateral long bone cortical sclerosis, hairy kidney appearance, coated aorta, right atrium pseudotumor, and periorbital masses.

Utility of Fluorine-18-Labeled Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography in Diagnosis of Erdheim-Chester Disease with Multisystemic Involvement.

Erdheim‒Chester disease (ECD) is a rare non-Langerhans' cell histiocytic proliferative disorder of unknown origin with multisystemic predilection. It commonly affects adults in the fifth-seventh decades of life, with male preponderance, and has nonspecific clinical manifestations. Presence of characteristic radiological findings and demonstration of CD68 positive xanthogranulomatous infiltrates in histology clinches the diagnosis. Nevertheless, being a nonmalignant condition, it might be fatal due to multiorgan dysfunction. Hence, timely diagnosis and initiation of treatment with corticosteroids, immunosuppressants, or tyrosine kinase inhibitors are of paramount importance. We present a case of ECD with multisystemic involvement, who was initially evaluated for the left lung mass and treated as tuberculosis, where fluorine-18-labeled fluorodeoxyglucose positron emission tomography/computed tomography aided in targeting the metabolically active site for biopsy as well as assessing the multisystemic involvement.

Erdheim-Chester Disease: A Case Report and Review of the Literature.

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans' cell histiocytosis characterized by xanthogranulomatous infiltration of foamy histiocytes surrounded by fibrosis. ECD may be asymptomatic or present as a multi-systemic disease with life-threatening manifestations, most commonly involving the skeletal system. Immunohistochemical staining demonstrates cells that are CD68+, CD1a-, and S100- with an absence of Birbeck granules. We report a case of a 69-year old male patient who presented with neurological symptoms - eventually thought to be separate to his diagnosis of ECD. It represents the ability to diagnose ECD based just on radiological findings in an otherwise asymptomatic individual.