A RARE CASE OF ERDHEIM-CHESTER DISEASE (ECD) MIMICKING IGG4-RELATED DISEASE (IGG4-RD)

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.

Download Full-text

AB0992 A difficult distinction – erdheim-chester disease mimicking igg4-related disease

10.1136/annrheumdis-2017-eular.6903 ◽

2017 ◽

Author(s):

P Korsten ◽

CO Sahlmann ◽

S Hakroush

Keyword(s):

Related Disease ◽

Igg4 Related Disease ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Download Full-text

Comparative Study of Clinical, Pathological, Radiological, and Genetic Features of Patients With Adult Ocular Adnexal Xanthogranulomatous Disease, Erdheim-Chester Disease, and IgG4-Related Disease of the Orbit/Ocular Adnexa

Ophthalmic Plastic and Reconstructive Surgery ◽

10.1097/iop.0000000000000661 ◽

2017 ◽

Vol 33 (2) ◽

pp. 112-119 ◽

Cited By ~ 13

Author(s):

Penelope McKelvie ◽

Alan A. McNab ◽

Thomas Hardy ◽

Vivek Rathi

Keyword(s):

Comparative Study ◽

Ocular Adnexa ◽

Related Disease ◽

Igg4 Related Disease ◽

Erdheim Chester Disease ◽

Genetic Features ◽

Erdheim Chester ◽

Chester Disease

Download Full-text

Erdheim-Chester Disease as a Mimic of IgG4-Related Disease

Medicine ◽

10.1097/md.0000000000003625 ◽

2016 ◽

Vol 95 (21) ◽

pp. e3625 ◽

Cited By ~ 13

Author(s):

Davide Gianfreda ◽

Claudio Musetti ◽

Maria Nicastro ◽

Federica Maritati ◽

Rocco Cobelli ◽

...

Keyword(s):

Related Disease ◽

Igg4 Related Disease ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Download Full-text

Three cases of BRAF mutation negative Erdheim-Chester disease with a challenging distinction from IgG4-related disease

Allergy Asthma & Clinical Immunology ◽

10.1186/s13223-020-00505-2 ◽

2021 ◽

Vol 17 (1) ◽

Author(s):

David Spoerl ◽

Raphaël André ◽

Aurélie Bornand ◽

Jörg D. Seebach

Keyword(s):

Renal Mass ◽

Correct Diagnosis ◽

Related Disease ◽

Igg4 Related Disease ◽

Erdheim Chester Disease ◽

Pet Ct ◽

Slow Progression ◽

Erdheim Chester ◽

Benign Course ◽

Chester Disease

Abstract Background Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with slow progression over the years that is particularly difficult to diagnose. Cases Here we report three cases of ECD without BRAF mutation presenting with a renal mass, hairy kidney appearance, and a rather benign course, for which the diagnosis of ECD was delayed, characterized by multiple investigations and unsuccessful treatments attempts. In two cases the distinction from IgG4-related disease required multiple investigations and reevaluation of the clinical, radiological, histological, and immunological characteristics. Conclusion A correct diagnosis of ECD may take several years and often requires revisiting previous hypotheses. Reassessment of histological slides and more modern complementary exams such as PET-CT or BRAF and MAPK-ERK mutation analysis can help to confirm the diagnosis of ECD and to select effective therapy.

Download Full-text

Isolated thoracic intramedullary Erdheim-Chester disease presenting with paraplegia: a case report and literature review

BMC Musculoskeletal Disorders ◽

10.1186/s12891-021-04061-7 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Ikchan Jeon ◽

Joon Hyuk Choi

Keyword(s):

Surgical Resection ◽

Fdg Pet ◽

Rare Case ◽

Systemic Disease ◽

Mass Lesion ◽

Erdheim Chester Disease ◽

Pet Ct ◽

Fdg Pet Ct ◽

Erdheim Chester ◽

Chester Disease

Abstract Background Erdheim-Chester disease (ECD) is a rare, idiopathic, systemic non-Langerhans cell histiocytosis involving long bone and visceral organs. Central nervous system (CNS) involvement is uncommon and most cases develop as a part of systemic disease. We present a rare case of variant ECD as an isolated intramedullary tumor. Case presentation A 75-year-old female patient with a medical history of diabetes and hypertension presented with sudden-onset flaccid paraparesis for 1 day. Neurological examination revealed grade 2–3 weakness in both legs, decreased deep tendon reflex, loss of anal tone, and numbness below T4. Leg weakness deteriorated to G1 before surgery. Preoperative magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) showed an intramedullary mass lesion at T2-T4 with no systemic lesion, which was heterogeneous enhancement pattern with cord swelling and edema from C7 to T6. Gross total removal was achieved for the white-gray-colored and soft-natured intramedullary mass lesion with an ill-defined boundary. Histological finding revealed benign histiocytic proliferation with foamy histiocytes and uniform nuclei. We concluded it as an isolated intramedullary ECD. The patient showed self-standing and walkable at 18-month with no evidence of recurrence and new lesion on spine MRI and whole-body FDG-PET/CT until sudden occurrence of unknown originated thoracic cord infarction. Conclusions We experienced an extremely rare case of isolated intramedullary ECD, which was controlled by surgical resection with no adjuvant therapy. Histological examination is the most important for final diagnosis, and careful serial follow-up after surgical resection is required to identify the recurrence and progression to systemic disease.

Download Full-text