Urologic Manifestations and Hydronephrosis as Initial Presentation of Erdheim-Chester Disease: A Rare Form of Non-Langerhans Histiocytosis

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis, characterized by the involvement of several organs. The lesions may be skeletal or extra-skeletal: in particular, long bones, skin, lungs, and the cardiovascular and the central nervous systems can be affected. In this report, we describe a case of a 34-year-old man, who came to our observation with symptomatic ECD, for a correct assessment of the degree of cardiac involvement through magnetic resonance imaging (MRI).

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An unusual case of interstitial lung disease in a patient with cardiopulmonary syndrome as the initial presentation of Erdheim-Chester disease

BMJ Case Reports ◽

10.1136/bcr-2017-220659 ◽

2017 ◽

pp. bcr-2017-220659

Author(s):

Domingo Franco-Palacios ◽

April McDonald ◽

R Neal Aguillard ◽

Allen Berry

Keyword(s):

Interstitial Lung Disease ◽

Lung Disease ◽

Unusual Case ◽

Initial Presentation ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

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Multisystem Radiologic Manifestations of Erdheim-Chester Disease

Case Reports in Radiology ◽

10.1155/2016/2670495 ◽

2016 ◽

Vol 2016 ◽

pp. 1-6

Author(s):

Umairullah Lodhi ◽

Uzair Sarmast ◽

Saadullah Khan ◽

Kavitha Yaddanapudi

Keyword(s):

Langerhans Cell Histiocytosis ◽

Disease Process ◽

Skeletal System ◽

Rare Form ◽

Equal Distribution ◽

Radiologic Findings ◽

Erdheim Chester Disease ◽

Males And Females ◽

Erdheim Chester ◽

Chester Disease

Erdheim-Chester Disease is a rare form of multiorgan non-Langerhans’ cell histiocytosis that affects individuals between the ages of 50 and 70 with an equal distribution among males and females. It is associated with significant morbidity and mortality that is mostly due to infiltration of critical organs. Some of the sites that Erdheim-Chester Disease affects include the skeletal system, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum), and skin. The most common presenting symptom of Erdheim-Chester Disease is bone pain although a large majority of patients are diagnosed incidentally during a workup for a different disease process. Diagnosing Erdheim-Chester Disease is challenging due its rarity and mimicry to other infiltrative processes. Therefore, a multimodality diagnostic approach is employed with imaging being at the forefront. As of date, a comprehensive radiologic review of the manifestations of Erdheim-Chester Disease has rarely been reported. Here we present radiologic findings of an individual suffering from Erdheim-Chester Disease.

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Erdheim chester disease: A case report and review of the literature

Case Reports in Clinical Pathology ◽

10.5430/crcp.v7n1p22 ◽

2020 ◽

Vol 7 (1) ◽

pp. 22

Author(s):

Rémie Philippe Elia ◽

ATALLAH Adnan ◽

AKIKI Béatrice ◽

WAKED Hani ◽

ZEIDAN Marwan ◽

...

Keyword(s):

Case Report ◽

Braf V600e ◽

Bone Lesions ◽

Review Of The Literature ◽

Rare Form ◽

Immune Profile ◽

Systemic Involvement ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Erdheim Chester disease is a rare form of non-Langerhans histiocytosis with frequent BRAF V600E mutations. It is mainly characterized by multifocal osteosclerotic bone lesions with or without systemic involvement. The histologic image is consistent with a histiocytic proliferation of foamy cells in a polymorphic background. The main difference from the Langerhans histiocytosis is the immune profile with mainly S100, CD1a, and langerin negative. The overall prognosis is dependent on extraskeletal involvement. Herein, we present a typical presentation of Erdheim Chester disease with a review of the literature.

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

Journal of Clinical Imaging Science ◽

10.25259/jcis_68_2020 ◽

2020 ◽

Vol 10 ◽

pp. 37

Author(s):

Hema Merai ◽

David Collas ◽

Ashish Bhagat ◽

Uday Mandalia

Keyword(s):

Systemic Disease ◽

Review Of The Literature ◽

Skeletal System ◽

Radiological Findings ◽

Rare Form ◽

Birbeck Granules ◽

Erdheim Chester Disease ◽

Life Threatening ◽

Erdheim Chester ◽

Chester Disease

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.

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Rare case of Erdheim Chester Disease with Intracranial Involvement as Initial Presentation

10.26226/morressier.5e8335ba7cb08a046ef7c657 ◽

2020 ◽

Author(s):

Malay Bhatt

Keyword(s):

Rare Case ◽

Initial Presentation ◽

Erdheim Chester Disease ◽

Intracranial Involvement ◽

Erdheim Chester ◽

Chester Disease

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Erdheim–Chester disease: a case treated with IFN-α monitored using plasma and urine cell-free DNA

Immunotherapy ◽

10.2217/imt-2019-0150 ◽

2020 ◽

Author(s):

Zhi Yang ◽

Sha Zhao ◽

Juan Zhou ◽

Song Lei ◽

Zhangxue Hu

Keyword(s):

Therapeutic Response ◽

Bone Biopsy ◽

Digital Pcr ◽

Pcr Assay ◽

Rare Form ◽

Cell Free Dna ◽

Free Dna ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Erdheim–Chester disease is a rare form of non-Langerhans histiocytosis. A 40-year-old woman was diagnosed as Erdheim-Chester disease based on typical bone scintigraphy, symmetric osteosclerosis and findings of foamy, non-Langerhans histiocytes in bone marrow. BRAFV600E mutation was detected in a bone biopsy. Treatment with IFN-α showed significant improvement. The BRAFV600E mutant was detected in plasma cell-free DNA (cfDNA) by a droplet-digital PCR assay. Longitudinal analysis of BRAFV600E in plasma cfDNA showed a decreasing trend during treatment. We could not detect the mutant in urinary cfDNA. While, similar studies have detected the BRAFV600E mutant in urine, but not in plasma. A combination of allele burden assessments in plasma and urine may be helpful for detecting the residual mutant burden and monitoring therapeutic response.

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Rare Form of Erdheim-Chester Disease Presenting with Isolated Central Skeletal Lesions Treated with a Combination of Alfa-Interferon and Zoledronic Acid

Case Reports in Hematology ◽

10.1155/2015/876752 ◽

2015 ◽

Vol 2015 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

E. N. Bulycheva ◽

V. V. Baykov ◽

M. I. Zaraĭskiĭ ◽

G. N. Salogub

Keyword(s):

Case Report ◽

Zoledronic Acid ◽

Clinical Symptoms ◽

Young Male ◽

Axial Skeleton ◽

Bone Lesions ◽

Rare Form ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Erdheim-Chester disease (ECD) represents a clonal non-Langerhans histiocytosis, which manifests under an extensive variety of clinical symptoms. This creates a challenge for the physician, who is required to recognize and diagnose the disease in the early stages. Despite this considerable challenge, in the last decade there has been a dramatic increase in ECD diagnoses, in most part due to an increasing awareness of this rare disorder. Involvement of the axial skeleton is exclusively uncommon with no official recommendations for the treatment of the bone lesions. Here, we present a case report of a young male patient with isolated lesions of the spine, ribs, and pelvis, who was successfully treated with a combination therapy of alfa-interferon and zoledronic acid.

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Atypical spine involvement of Erdheim-Chester disease in an elderly male

Journal of Neurosurgery Spine ◽

10.3171/2009.10.spine09316 ◽

2010 ◽

Vol 12 (3) ◽

pp. 257-260 ◽

Cited By ~ 6

Author(s):

Andrew M. Allmendinger ◽

Alan V. Krauthamer ◽

Vadim Spektor ◽

Mohamed S. Aziz ◽

Bruce Zablow

Keyword(s):

Clinical Characteristics ◽

Central Nervous System Disease ◽

Elderly Male ◽

Rare Form ◽

System Disease ◽

Erdheim Chester Disease ◽

Imaging Characteristics ◽

Erdheim Chester ◽

Spine Disease ◽

Chester Disease

Erdheim-Chester disease is a rare form of non-Langerhans histiocytosis presenting in the 5th through 7th decades of life. Osseous manifestations include symmetrical sclerosis of the long bones and, rarely, the spine. Central nervous system disease commonly affects the white matter tracts as well as the orbits, but epidural disease is rare. To the best of the authors' knowledge, simultaneous epidural and skeletal spine disease has not been reported. The MR imaging characteristics of skeletal spine disease have also not been reported. The authors describe the case of an 87-year-old man with both epidural and skeletal spine disease. The clinical characteristics, imaging manifestations, and the histological features are discussed.

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