Erdheim-Chester disease: an unusual aetiology of bilateral lipomatous perinephric masses

2021 ◽  
Vol 14 (4) ◽  
pp. e239137
Author(s):  
Rashmi Singh ◽  
Priyanka Naranje ◽  
Prashant Ramateke ◽  
Nishikant Avinash Damle
Keyword(s):  
Plasma Cells ◽  
Symptomatic Improvement ◽  
Interferon Α ◽  
Tissue Mass ◽  
Orbital Roof ◽  
Erdheim Chester Disease ◽  
Contrast Enhanced Ct ◽  
Positron Emission ◽  
Erdheim Chester ◽  
Chester Disease

A 53-year-old man presented with a history of progressive abdominal distention for 1 year. Physical examination revealed large palpable masses in the bilateral flank regions. Contrast-enhanced CT of the abdomen showed bilateral, symmetrical large perinephric masses with fat attenuating areas, which was further confirmed on MRI. CT of the paranasal sinuses revealed circumscribed extraconal soft tissue mass in the left orbit, causing scalloping and erosion of the left orbital roof. Fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography/CT showed FDG uptake in the bilateral perinephric masses. Based on imaging appearance, a diagnosis of Erdheim-Chester disease (ECD) was suggested. Ultrasound-guided biopsy from perinephric masses revealed a sheet of histiocytes with sprinkled lymphocytes and plasma cells in the background. The histiocytes were immunopositive for CD68, S100 and immunonegative for CD1a, which confirmed the diagnosis of ECD. The patient was started on interferon-α-2a and showed symptomatic improvement.

scholarly journals Bilateral Renal Colic as an Initial Presentation of Erdheim-Chester Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Julien Sarkis ◽  
Fady Haddad ◽  
Sarah Nasr ◽  
Elie Hanna ◽  
Ahmad Mroueh ◽  
...  
Keyword(s):  
Renal Colic ◽  
Kidney Injury ◽  
Term Treatment ◽  
Whole Body ◽  
Ct Guided ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Long Term Treatment ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare non-Langerhans cells histiocytosis characterized by multiorgan involvement, with renal-ECD documented in over one-third of patients. Renal disease is generally asymptomatic, rarely causing hydronephrosis and kidney impairment. In addition, the diverse clinical picture of Erdheim-Chester disease arises slowly with sequential manifestations. We present a rare case of a 75-year-old woman on long-term treatment for panhypopituitarism and steroid therapy for vasculitis, presenting to the emergency department with bilateral renal colic and acute kidney injury. Abdominopelvic CT scan revealed renal infiltration with signs of retroperitoneal fibrosis and hydronephrosis. Kidney CT-guided biopsy and 18-fluorodeoxyglucose (FDG) positron emission tomography whole body scan as well as the history of hypopituitarism and vasculitis confirmed the diagnosis of Erdheim-Chester disease. Proper therapy with interferon-α was started. This case describes the multifaced manifestation of this disease and the difficulty to establish the diagnosis, as well as the pivotal role that a urologist can play in its management.

Variability in the efficacy of interferon-α in Erdheim-Chester disease by patient and site of involvement: Results in eight patients

2006 ◽  
Vol 54 (10) ◽  
pp. 3330-3336 ◽  
Author(s):  
Julien Haroche ◽  
Zahir Amoura ◽  
Salim G. Trad ◽  
Bertrand Wechsler ◽  
Philippe Cluzel ◽  
...  
Keyword(s):  
Interferon Α ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients

Blood ◽  
2011 ◽  
Vol 117 (10) ◽  
pp. 2783-2790 ◽  
Author(s):  
Laurent Arnaud ◽  
Guy Gorochov ◽  
Frédéric Charlotte ◽  
Virginie Lvovschi ◽  
Christophe Parizot ◽  
...  
Keyword(s):  
Interferon Γ ◽  
Interferon Α ◽  
Single Center ◽  
Serum Samples ◽  
Individual Level ◽  
Erdheim Chester Disease ◽  
The Individual ◽  
The Impact ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Immunopathogenesis of Erdheim-Chester disease (ECD), a rare non–Langerhans cell histiocytosis, is poorly known. In previous studies, various cytokines were detected in ECD lesions, presumably orchestrating lesional histiocyte recruitment. Because ECD lesions are frequently associated with systemic symptoms, we postulated that underlying global immune perturbations might also be revealed. We quantitatively analyzed 23 cytokines in serum samples obtained from a large single-center cohort of 37 patients with ECD, and studied the impact of treatment on cytokine production. IL-6, IL-12, interferon-α (IFN-α), and monocyte chemotactic protein-1 (MCP-1) levels were significantly higher in untreated patients than in controls, whereas interferon-γ (IFN-γ) inducible protein 10, IL-12, MCP-1, and IL-1 receptor antagonist were found significantly increased in IFN-α–treated patients. A biomathematical approach was used to rationalize multiparameter data, to generate new hypotheses, and identify global control pathways. Interestingly, cytokine profiles proved to be particularly stable at the individual level, and an “ECD signature” further distinguished patients from controls, based on their production of IFN-α, IL-12, MCP-1, IL-4, and IL-7. Altogether, our data underline the systemic immune Th-1–oriented perturbation associated with this condition and provide clues for the choice of more focused therapeutic agents in this rare disease with noncodified therapeutic management.

Successful treatment of Erdheim-Chester disease, a non–Langerhans-cell histiocytosis, with interferon-α

Blood ◽  
2005 ◽  
Vol 106 (9) ◽  
pp. 2992-2994 ◽  
Author(s):  
Fadi Braiteh ◽  
Cynthia Boxrud ◽  
Bita Esmaeli ◽  
Razelle Kurzrock
Keyword(s):  
Standard Treatment ◽  
Advanced Disease ◽  
Terminal Differentiation ◽  
Bone Lesions ◽  
Interferon Α ◽  
Erdheim Chester Disease ◽  
Multisystem Involvement ◽  
Starting Dose ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Erdheim-Chester disease is a rare non-Langerhans histiocytosis with multisystem involvement. To date, there is no standard treatment for this disorder, and more than half of the patients succumb within 3 years. Because interferon-α promotes the terminal differentiation of histiocytes and dendritic cells, we hypothesized that this molecule would be a useful therapy for Erdheim-Chester disease. We therefore treated 3 patients with advanced disease with interferon-α at a starting dose of 3 to 6 × 106 units, which was later reduced, during maintenance, to 1 × 106 units subcutaneous 3 times per week. Marked improvement was noted in all patients, with substantial retro-orbital disease regression within 1 month. Improvement in bone lesions, pain, diabetes insipidus, and other manifestations was gradual over many months. Responses were durable (3+ to 4.5+ years). Our observations suggest that this well-tolerated therapy has a significant effect on the course and outcome of Erdheim-Chester disease.

scholarly journals Cerebellar ataxia and exercise intolerance in Erdheim-Chester disease

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Eleonora Lauricella ◽  
Antonio d’Amati ◽  
Giuseppe Ingravallo ◽  
Maurizio Foresio ◽  
Domenico Ribatti ◽  
...  
Keyword(s):  
Cerebellar Atrophy ◽  
Exercise Intolerance ◽  
Whole Body ◽  
Diffuse Infiltration ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Fluid Attenuated Inversion Recovery ◽  
Cd 68 ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Background Erdheim-Chester disease (ECD), a rare disorder of monocyte/macrophage lineage, has been related to cerebellar dysfunction. To increase the awareness of this rare, protean disease, an unusual, myasthenia-like onset of ECD is reported. Case presentation A 42-year-old man presented with a 6-year history of mild evening fatigability in his four limbs followed by motor and cognitive symptoms associated with cerebellar atrophy, dentate nuclei and dentato-thalamic pathway degeneration. Magnetic resonance imaging revealed hyperintense signals in T2 and fluid-attenuated inversion recovery sequences within the pons, cerebellar white matter, dentate nuclei and globi pallidi in the absence of any contrast enhancement. Whole-body bone scintigraphy with 99Technetium - methylene diphosphonate and fluorodeoxyglucose-positron emission tomography both revealed symmetric uptake in the lower extremities a finding suggestive of a diagnosis of ECD. Histological examination revealed diffuse infiltration of CD 68+ histiocytes with foamy cytoplasms in the presence of B-type of Rapidly Accelerated Fibrosarcoma protein kinase (BRAF)V600E activating mutation in tumor cells. Conclusion In patients with myasthenia-like symptoms who test negatively for myasthenia gravis, neurodegenerative diseases, and disorders of the hypothalamus, a diagnosis of ECD should be taken into consideration.

scholarly journals Whole body positron emission tomography-MRI of Erdheim-Chester disease: a case report

2020 ◽  
Vol 10 (12) ◽  
pp. 2379-2386
Author(s):  
Nunzia Garbino ◽  
Bruna Punzo ◽  
Antonio Todisco ◽  
Giovanni Cirillo ◽  
Carlo Cavaliere
Keyword(s):  
Positron Emission Tomography ◽  
Case Report ◽  
Emission Tomography ◽  
Whole Body ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals An Unusual Case of Myasthenia-Like Presentation in Erdheim-Chester Disease

2020 ◽  
Author(s):  
Eleonora Lauricella ◽  
Antonio d'Amati ◽  
Giuseppe Ingravallo ◽  
Maurizio Foresio ◽  
Domenico Ribatti ◽  
...  
Keyword(s):  
Cerebellar Atrophy ◽  
Whole Body ◽  
Diffuse Infiltration ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Fluid Attenuated Inversion Recovery ◽  
History Of ◽  
Cd 68 ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Background: Erdheim-Chester disease (ECD), a rare disorder of monocyte/macrophage lineage, has been related to cerebellar dysfunction. To increase the awareness of this rare, protean disease, an unusual, myasthenia-like onset of ECD is reported.Case presentation: A 42-year-old man presented with a 6-year history of mild evening fatigability in his four limbs followed by motor and cognitive symptoms associated with cerebellar atrophy, dentate nuclei and dentato-thalamic pathway degeneration. Magnetic resonance imaging revealed hyperintense signals in T2 and fluid-attenuated inversion recovery sequences within the pons, cerebellar white matter, dentate nuclei and globi pallidi in the absence of any contrast enhancement. Whole-body bone scintigraphy with 99Technetium - methylene diphosphonate and fluorodeoxyglucose-positron emission tomography both revealed symmetric uptake in the lower extremities a finding suggestive of a diagnosis of ECD. Histological examination revealed diffuse infiltration of CD 68+ histiocytes with foamy cytoplasms in the presence of B-type of Rapidly Accelerated Fibrosarcoma protein kinase (BRAF)V600E activating mutation in tumor cells.Conclusion: In patients with myasthenia-like symptoms who test negatively for myasthenia gravis, neurodegenerative diseases, and disorders of the hypothalamus, a diagnosis of ECD should be taken into consideration.

scholarly journals Cytomorphology of Erdheim–Chester disease presenting as a retroperitoneal soft tissue lesion

CytoJournal ◽  
2011 ◽  
Vol 8 ◽  
pp. 22 ◽  
Author(s):  
Bibianna Purgina ◽  
Ronald Jaffe ◽  
Sara E. Monaco ◽  
Walid E. Khalbuss ◽  
H. Scott Beasley ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Factor Xiiia ◽  
Soft Tissue Lesion ◽  
Multisystem Disorder ◽  
Tissue Mass ◽  
Tissue Lesion ◽  
Erdheim Chester Disease ◽  
Organ Systems ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim–Chester disease (ECD) is a rare, multisystem disorder of macrophages. Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous lesions in multiple organ systems. The cytologic features of this disorder are not well characterized. As a result, the cytologic diagnosis of ECD can be very challenging. The aim of this report is to describe the cytomorphology of ECD in a patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman with proptosis and diabetes insipidus was found on imaging studies to have multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft tissue mass. Fine needle aspiration (FNA) and a concomitant core biopsy of this abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68, CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical context. This case describes the cytomorphologic features of ECD and highlights the role of cytology in helping reach a diagnosis of this rare disorder.

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