Erdheim-Chester Disease with a Posterior Fossa Tumour Mimicking Neurosarcoidosis: A Case Report.

Abstract Erdheim-Chester disease (ECD) is a rare non-Langerhans'cell histiocytosisdescribed in 1930 by Jakob Erdheim and William Chester, it can present as a multisystemic entity that forms xanthogranulomas which are foamy histiocytes surrounded by fibrotic tissue. Lesions are commonly located in long bones, central nervous system (CNS), cardiovascular system, lungs, kidneys and skin. The CNS is involved in approximately 50% of cases and can compromise both extra or intra-axial structures and therefore can mimic schwannomas or meningiomas, amongst other mass lesions [2, 9]. Clinical presentation will differ from patient to patient thus diagnosis depends greatly in imaging, immunohistochemistry and genetic findings within the pathology analysis [4]. The pathogenesis of this disease remains unknown. It is most commonly found in the middle-aged male population [1, 8]. Here, we present a case of a middle-aged woman with an extra-axial lesion that was initially considered to be neurosarcoidosis proving the diagnostic challenge this entity implies.

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Melanoacanthoma on the nipple of a middle-aged woman: A diagnostic challenge

JAAD Case Reports ◽

10.1016/j.jdcr.2021.01.026 ◽

2021 ◽

Vol 9 ◽

pp. 93-96

Author(s):

Maria Fernanda Hunziker ◽

Gianine Rigoni Guaraldo ◽

Nilceo Schwery Michalany ◽

Alexandre Michalany ◽

Antonio Carlos Herrmann de Andrade ◽

...

Keyword(s):

Middle Aged ◽

Diagnostic Challenge ◽

Aged Woman ◽

Middle Aged Woman

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Intracranial mass lesions and skin discoloration in the armpits as unusual clues to Erdheim-Chester disease: a case report

BMC Neurology ◽

10.1186/s12883-021-02107-w ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Pedro Gustavo Barros Rodrigues ◽

Isabelle de Sousa Pereira ◽

Valter Barbalho Lima Filho ◽

Daniel Aguiar Dias ◽

Paulo Ribeiro Nóbrega ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Central Nervous System Involvement ◽

Skin Lesions ◽

Neurological Signs ◽

Intracranial Mass ◽

Erdheim Chester Disease ◽

Mass Lesions ◽

Erdheim Chester ◽

Chester Disease

Abstract Background Erdheim–Chester disease (ECD) is a non-Langerhans histiocytosis that results in multi-organ disease involving the skin, bones, lungs and kidneys. Central nervous system (CNS) involvement occurs in about 50 % of patients, and diabetes insipidus, visual disturbances, and cerebellar ataxia are the most frequent neurological signs. We report a case of Erdheim-Chester disease with central nervous system involvement in the form of enhancing intracranial mass lesions with massive edema. Case presentation The patient presented with vertigo, ataxia, encephalopathy and pyramidal signs. Diagnosis was suggested by xanthomatous skin lesions and a biopsy was compatible with Erdheim-Chester disease demonstrating xanthogranulomas CD68 positive (clone KP1) and CD1a and S100 negative. Testing for BRAF mutation was negative, which precluded treatment with Vemurafenib. Treatment with steroids and interferon resulted in improvement of neurological signs and regression of edema on MRI. Conclusions The diagnosis of Erdheim-Chester disease should be considered in intracranial mass lesions. Xanthomatous skin lesions are a clue to the diagnosis.

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Erdheim-Chester disease with multisystemic involvement: a diagnostic challenge

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20194334 ◽

2019 ◽

Vol 7 (10) ◽

pp. 3928

Author(s):

Arpita Nishal ◽

Komal Patel ◽

Vasudha Bhagat ◽

Siddhi Patel ◽

Nency Gandhi ◽

...

Keyword(s):

Unknown Origin ◽

Tracer Uptake ◽

Diagnostic Challenge ◽

Erdheim Chester Disease ◽

Radiological Data ◽

Organ Systems ◽

Critical Organ ◽

Mononuclear Infiltrate ◽

Erdheim Chester ◽

Chester Disease

Erdheim–Chester disease (ECD) is a rare, non-inherited, non- Langerhans form of histiocytosis of unknown origin, first described in 1930. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for CD68. Individuals affected by this disease are typically adults between their 4th and 6th decades of life. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen with aid of clinical and radiological data. Here we present a rare case of Erdheim-Chester disease in a 46 year male patient based on clinical data, radiological data, histopathological and immunohistochemistry findings.

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Erdheim-Chester Disease: A Rare Clinical Entity

European Journal of Case Reports in Internal Medicine ◽

10.12890/2020_001630 ◽

2020 ◽

Author(s):

Margarida Oliveira ◽

Sofia Monteiro ◽

Joana dos Santos ◽

Ana Catarina Silva ◽

Rute Morais Ferreira

Keyword(s):

Pericardial Effusion ◽

Diagnostic Challenge ◽

Diffuse Infiltration ◽

Cardiothoracic Ratio ◽

Erdheim Chester Disease ◽

Retrosternal Pain ◽

Moderate Volume ◽

Chest X Ray ◽

Erdheim Chester ◽

Chester Disease

Pericardial effusion represents a diagnostic challenge. Erdheim-Chester disease (ECD), though a rare cause, should be considered in the differential diagnosis. An 88-year-old woman was admitted to the hospital due to retrosternal pain, dyspnoea and constitutional symptoms. Hypoxaemic respiratory failure and increased inflammatory markers were documented. A chest x-ray revealed an increased cardiothoracic ratio. An echocardiogram showed a moderate-volume pericardial effusion, without signs of cardiac tamponade. A thoraco-abdomino-pelvic CT scan found a bilateral perirenal soft tissue halo. Perirenal mass biopsy showed diffuse infiltration by foamy histiocytes (CD68+), without IgG4, compatible with ECD. The correlation of anamnesis, radiology and histology is crucial for the diagnosis of ECD.

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Cerebral Microvascular Erdheim-Chester Disease: A Perivascular Hematopoietic Vasculopathy

Cerebrovascular Diseases ◽

10.1159/000516803 ◽

2021 ◽

pp. 1-6

Author(s):

Michael Moussouttas ◽

Shanu Roemer ◽

Dennis W. Dickson

Keyword(s):

Nervous System ◽

The Novel ◽

Hematopoietic Malignancy ◽

Erdheim Chester Disease ◽

Mass Lesions ◽

Erdheim Chester ◽

Perivascular Infiltration ◽

Chester Disease

Erdheim-Chester disease (ECD) is a rare and elusive hematopoietic malignancy that may involve the nervous system in various ways. Cerebrovascular ECD involves the perivascular infiltration and compromise of any cervicocranial vessel by transformed proliferating histiocytes. Presented is the novel case of a patient with pathologically proven perivascular microangiopathy, manifesting in multifaceted fashion with ischemia, hemorrhage, mass lesions, and edema.

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