scholarly journals P25 Erdheim-Chester disease: a rare histocytosis masked as IgG4 disease

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Dhivya Das ◽  
Sharon Jones
Keyword(s):  
Bone Pain ◽  
Retroperitoneal Fibrosis ◽  
Female Ratio ◽  
Ifn Alpha ◽  
Erdheim Chester Disease ◽  
Cranial Nerve Palsies ◽  
Xanthogranulomatous Inflammation ◽  
History Of ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Background Erdheim-Chester disease (ECD) is a rare non-inherited, non-Langerhans form histiocytosis reclassified as a histiocytic neoplasm was first described in 1930 by Jakob Erdheim and William Chester. Only 500 cases were reported. Onset is usually between 50 to 70 years old. Male to female ratio is 3:1. Symptoms include long bone pain, fever, weight loss, exophthalmos, papilledema, headaches, cranial nerve palsies and sensory disturbances. Skeletal Abnormalities includes bilateral and symmetric cortical osteosclerosis of long bones. Cardiovascular involvement includes a ‘coated aorta’ which can involve renal arteries leading to reno-vascular hypertension. Pulmonary and retroperitoneal fibrosis has been reported. Methods We present a 90 year old gentleman with a complicated history of diplopia, proptosis with large retrobulbar orbital masses (confirmed on CT orbits) increasing in size over 2 years. He was symptomatic with bone pain, recurrent falls, dizziness and shortness of breath. He had a background history of pulmonary embolism, atrial fibrillation, hypertension and osteoporosis. On examination, no joint synovitis or lymphadenopathy noted. Chest examination revealed mild inspiratory crackles. Results CRP was recorded at 150mg/L. ANA, ENA, ANCA, anti-DsDNA, RF, anti-MCV antibodies were negative. IgG4 levels were normal. Pulmonary Function tests showed a restrictive Pattern - FEV1/FVC - 64%, FVC - 68%, TLC - 75%, TLCO - 68% predicted. CT Chest reported aortitis and mild undifferentiated pulmonary fibrosis. CT aorta done subsequently reported extensive soft tissue changes of the abdominal and thoracic Aorta which extended to the renal hila causing bilateral hydronephrosis. There was confirmed retroperitoneal Fibrosis and widespread para-aortic lymphadenopathy. He was stented by the urologists for hydronephrosis. Orbital biopsy of his left eye revealed xanthogranulomatous inflammation with widespread foamy histiocytes (CD68 positive). S100 and CD1a were negative. This confirms a clinical correlation of ECD. Further multidisciplinary discussions suggested that he stays on high dose prednisolone of 30mg daily. Localised radiotherapy was successful in debulking his orbital lesions. Chemotherapy was discussed but he does not wish for this. Conclusion Differential diagnoses for ECD include IgG4 disease, Granulomatosis with polyangiitis, Takayasu’s arteritis, Langherhan Cell histiocytosis, or malignancies. Tissue diagnosis describes infiltration of foamy histiocytes, lymphocytes and lipid laden macrophages. It is distinguished by immunohistological characteristics (ECD positive for CD68, negative for CD1a and S-100 protein) in 80 percent of cases. Serum Assay Samples can show high IFN-alpha, IL1, IL-6 and IL-12 titres. First line treatment is pegylated IFN-alpha. Bisphosphonates can alleviate bone pain. Cladribine has helped those with orbital involvement. Anakinra or Inflixamab improves symptoms of mild forms of ECD. Vemurafenib is used for patients with the BRAFV600 proto-oncogene mutation. PET scans are recommended for disease activity assessment. ECD has a variable prognosis but poorer in those with CNS involvement. With treatment, the mortality rate is 26% and 5-year survival is 68%. Disclosures D. Das None. S. Jones None.

scholarly journals Erdheim-Chester Disease: The Importance of Information Integration

2017 ◽  
Vol 10 (2) ◽  
pp. 613-619 ◽  
Author(s):  
Anna Nikonova ◽  
Khashayar Esfahani ◽  
Guillaume Chausse ◽  
Stephan Probst ◽  
Tina Petrogiannis-Haliotis ◽  
...  
Keyword(s):  
Retroperitoneal Fibrosis ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
High Dose ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Erdheim Chester Disease ◽  
History Of ◽  
Erdheim Chester ◽  
Chester Disease

Background: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis disorder that utilizes the RAS-RAF-MEK-ERK pathway. It has a highly variable clinical presentation, where virtually any organ can be involved, thus having the potential of posing a great diagnostic challenge. Over half of the reported cases have the BRAF V600E mutation and have shown a remarkable response to vemurafenib. Case Presentation: We describe herein a patient with a history of stroke-like symptoms and retroperitoneal fibrosis that on initial pathology raised the possibility of IgG4-related disease. However, the patient was refractory to high-dose steroids and progressed further, developing an epicardial soft tissue mass and recurrent neurological symptoms. Integration of the above findings with new information at another hospital about a radiological history of symmetrical lower extremities long bone lesions raised the differential diagnosis of ECD. Molecular analysis of formalin-fixed paraffin-embedded tissue of both of the patient’s retroperitoneal biopsies (the second one of which had shown a small focus of foamy histiocytes, CD68+/CD1a–) was positive for BRAF mutation, confirming the diagnosis of ECD. The patient demonstrated a dramatic and sustained metabolic response to vemurafenib on follow-up positron emission tomography scans. Conclusion: This case highlights the need for developing a high index of suspicion for presentations of retroperitoneal fibrosis that could represent IgG4-related disease but fail to respond to steroids. When unusual multisystem involvement occurs, one should consider a diagnosis of a rare histiocytosis. Vemurafenib appears to be an effective treatment for even advanced cases of both ECD and Langerhans histiocytosis bearing the BRAF V600E mutation.

Erdheim-Chester Disease

2010 ◽  
pp. 761-768
Author(s):  
Edward C. Rosenow
Keyword(s):  
Bone Pain ◽  
Histiocytosis X ◽  
Bone Involvement ◽  
Long Bone ◽  
Multiple Organs ◽  
Erdheim Chester Disease ◽  
Lytic Lesions ◽  
Erdheim Chester ◽  
Chester Disease

• Disease of bone with bilateral symmetric sclerosis of metadiaphyseal region of long bone ∘ 35% of patients have lytic lesions • Bone pain in 35% of patients despite nearly 100% bone involvement • Lungs affected in 35% of patients • Multiple organs can be involved—liver, skin, brain, heart or pericardium with infiltration of lipid-laden foamy histiocytes (? variant of histiocytosis X)...

Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review

Neurosurgery ◽  
2019 ◽  
Vol 85 (4) ◽  
pp. E693-E701 ◽  
Author(s):  
John P Marinelli ◽  
Pierce A Peters ◽  
Augusto Vaglio ◽  
Jamie J Van Gompel ◽  
John I Lane ◽  
...  
Keyword(s):  
Skull Base ◽  
Central Nervous System Involvement ◽  
Case Series ◽  
Mass Effect ◽  
Female Ratio ◽  
Trigeminal Schwannoma ◽  
Erdheim Chester Disease ◽  
Institutional Review ◽  
Erdheim Chester ◽  
Chester Disease

AbstractBACKGROUNDErdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. Up to 50% of patients develop central nervous system involvement, and a subset of these patients can present with isolated tumor-like masses.OBJECTIVETo describe the skull base manifestations of ECD with an emphasis on aspects most pertinent to surgeons who may be referred such patients for primary evaluation.METHODSScopus, Web of Science, and PubMed were searched from database inception to May 1, 2018 for articles reporting skull base ECD. An institutional retrospective analysis of all patients treated at the authors’ institution since January 1, 1996 was also performed to supplement these data.RESULTSOf 465 retrieved articles, 18 studies totaling 20 patients met inclusion criteria. Institutional review identified an additional 7 patients. Collectively, the median age at diagnosis was 49 yr (interquartile range, 42-58) with a 4:1 male-to-female ratio. Patients frequently presented with diplopia (48%), headache (30%), dysarthria (22%), and vertigo or imbalance (22%), though trigeminal hypesthesia (11%), facial nerve paresis (7%), hearing loss (7%), and trigeminal neuralgia (7%) were also observed. ECD commonly mimicked meningioma (33%), trigeminal schwannoma (8%), neurosarcoidosis (8%), and skull base lymphoma (8%).CONCLUSIONDiscrete skull base lesions frequently mimic more common pathology such as meningioma or cranial nerve schwannomas. Medical therapy comprises the initial treatment for symptomatic skull base disease. Surgical resection is not curative and the utility of surgical intervention is largely limited to biopsy to establish diagnosis and/or surgical debulking to relieve mass effect.

scholarly journals BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease

2019 ◽  
Vol 7 (1) ◽  
Author(s):  
J. Picarsic ◽  
T. Pysher ◽  
H. Zhou ◽  
M. Fluchel ◽  
T. Pettit ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Diagnostic Algorithm ◽  
Braf V600e ◽  
Juvenile Xanthogranuloma ◽  
Female Ratio ◽  
Integrated Diagnosis ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Abstract The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases (≤18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3–12 y), vs. WT: 7.6 years (1–18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.

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 Relevant Imaging Presentation of Erdheim-Chester Disease: A case-report

2018 ◽  
Vol 13 (2) ◽  
Author(s):  
Philippe Jacob
Keyword(s):  
Bone Pain ◽  
Clinical Manifestations ◽  
Braf Inhibitor ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Bone Lesions ◽  
Erdheim Chester Disease ◽  
Promising Treatment ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare non-Langerhans multisystemic histiocytosis. This disorder is characterised by CD68+/CDa1- foamy histiocytes infiltration in tissues, especially bones, retroperitoneum, heart, lung and brain. Clinical manifestations may range from asymptomatic bone lesions to multiorganic symptoms. Bone pain in lower extremities are however the most common symptoms. Typical imaging findings include symmetric dyaphyseal osteosclerosis of long bones, periaortic sheathing (“coated aorta”) and retroperitoneal infiltration (“hairy kidney”). Lung and brain radiological abnormalities may also be seen on imaging screening. BRAF-V600E mutation is associated with around half of ECD patients. Vemurafenib, a mutated BRAF inhibitor, is a promising treatment for patients with this mutation. We present the case of a 60 years old man who arrived with a pathological right humerus fracture, and who was first admitted for a tuberculosis suspicion. ECD was first suspected with imaging screening.

scholarly journals Diverse cutaneous manifestations of Erdheim-Chester disease in a woman with a history of Langerhans cell histiocytosis

2016 ◽  
Vol 2 (2) ◽  
pp. 128-131 ◽  
Author(s):  
Julia Pettersen Neckman ◽  
Joyce Kim ◽  
Mahan Mathur ◽  
Peggy Myung ◽  
Michael Girardi
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Cutaneous Manifestations ◽  
Erdheim Chester Disease ◽  
History Of ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals An unusual Erdheim-Chester disease with orbital involvement: a case report

2016 ◽  
Vol 10 ◽  
Author(s):  
Giuseppe Brunori ◽  
Aurelio Seidita ◽  
Lydia Giannitrapani ◽  
Antonietta Serruto ◽  
Francesco Bencivinni ◽  
...  
Keyword(s):  
Poor Response ◽  
Response To Therapy ◽  
Erdheim Chester Disease ◽  
Left Lateral Ventricle ◽  
Temporal Horn ◽  
History Of ◽  
Total Body ◽  
Erdheim Chester ◽  
Chester Disease ◽  
Maxillary Sinuses

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis with multiorgan involvement and a specific tropism for perivascular and fatty connective tissue, of unclear origin, with poor response to therapy. Its identification is difficult because of the variable clinical presentation and its lack of knowledge. We report the case of a 63-years-old woman, with a history of bilateral orbital pseudotumor, who comes to our attention because of progressively worsening asthenia, vomiting and systemic inflammation. Total body computerized tomography scan showed a volumetric increase of choroid plexus of the temporal horn of the left lateral ventricle, presence of solid retrobulbar tissue at the level of both maxillary sinuses, lung fibrosis, and retroperitoneal and peri-aortic infiltration. The association of these signs addressed to a diagnosis of Erdheim- Chester disease. Thus, although extremely rare, the diagnosis of Erdheim-Chester disease must be considered in the case of bilateral retro-orbital tumors and multisystemic involvement.

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