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Technetium 99 ( 99m Tc) bone scintigraphy. (a) Anterior. (b) Posterior. 99m Tc bone scintigraphy shows high integration in the long bones, scapulae, and ribs.
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Erdheim–Chester disease (ECD), a rare form of non-Langerhans cell histiocytosis, is characterized by the infiltration of foamy CD68⁺ and CD1a⁻ histiocytes into multiple organ systems. Central nervous system (CNS) involvement has recently been reported to be a poor prognostic factor when treating ECD with interferon alpha. We report the case of a 66...
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Context 1
... of the lateral ventricular mass was performed for diagnosis, but discrimination between ECD and Rosai-Dorfman disease (RDD) was difficult due to an insufficient amount of the specimen. However, high integra- tion in the long bones, scapulae, and ribs was noted by tech- netium-99 ( 99m Tc) bone scintigraphy, suggesting ECD ( Figure 2). Therefore, we additionally performed a biopsy of the left tibia. ...
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Histiocytosis is a rare systemic disease, with heterogeneous and diverse clinical and radiological presentations. Diagnosis can therefore be intriguing. Several consensus recommendations have emerged in recent years, particularly with the advent of targeted therapies, changing the management and prognosis. The authors present two cases of neurohist...
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Erdheim-Chester disease (ECD) is a rare entity throughout the world. This is the first case reported in Nepal. ECD is a rare aggressive, non-Langerhan's histocytosis of unknown origin with classical histological features. The patient usually presents with bone pain or skeletal symptoms along with other constitutional syndrome. Although, no definiti...
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Citations
... Průběh nemoci je velmi individuální a odpovídá stupni poškození organizmu, nezřídka byl popsán fatální konec (34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44). Četnost projevů ilustruje graf 1. ...
... • Pro pacienty s menším rozsahem choroby, která postihuje kosti a retroperitoneum, se doporučují bio logické léky blokující interleukin-1, ponejvíce anakinra (34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44). ...
... The use of Cladribine, also known as 2-chlorodeoxyadenosine, a purine analog that preferentially depletes lymphocytes [328], has been documented in numerous case reports. Cladribine was found to have moderate efficacy in improving or sustaining clinical or radiological response [329], although reports describing more promising outcomes exist [91,330,331]. Cladribine is generally well tolerated but involves adverse events such as infectious complications, neutropenia, and thrombocytopenia [329]. Caution must be exercised when utilizing Cladribine in ocular manifestations of ECD by careful monitoring of proptosis and optic nerve compression [91]. ...
... Histiocytoses are generally classified as Langerhans cell histiocytosis (LCH) or non-LCH (1). Erdheim-Chester disease (ECD) is a rare form of non-LCH that was first described by Jakob Erdheim and William Chester in 1930 (2). ...
... Erdheim-Chester disease (ECD) is a rare form of non-LCH that was first described by Jakob Erdheim and William Chester in 1930 (2). ECD is characterized by the infiltration of CD68-positive, CD1a-negative foamy histiocytes into multiple organs (1)(2)(3). Since this disease is very rare and has only been reported in around 500-550 cases worldwide to date, diagnosis of ECD is often difficult and can be delayed (2). ...
... CD1a + (2, 3). The somatic mutation in the BRAF V600E gene, which has been detected in multiple malignant neoplasms including melanoma, colorectal carcinoma, papillary thyroid carcinoma, and hairy cell leukemia, has recently also been identified in more than 50% of patients with LCH and ECD, suggesting that both diseases are malignant neoplasms sharing common progenitor cells (1)(2)(3)6). In addition to histopathologic features, characteristic multiple-organ involvement is useful for diagnosing ECD. ...
Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis characterized by the infiltration of foamy histiocytes into multiple organs. We herein report a case of ECD with central nervous system (CNS) involvement in a 63-year-old man who also presented a positive result for Toxoplasma gondii nested polymerase chain reaction testing of cerebrospinal fluid. Since anti-Toxoplasma treatment proved completely ineffective, we presumed latent infection of the CNS with T. gondii. This case suggests the difficulty of distinguishing ECD with CNS involvement from toxoplasmic encephalitis and the possibility of a relationship between the pathogeneses of ECD and infection with T. gondii.
... V některých případech byla popsána účinná léčbě kladribinem (20,21), která má potenciál navodil dlouhodobější kompletní remisi. ...
The histiocytoses are rare disorders characterized by the accumulation of cells thought to be derived from dendritic cells or macrophages. Their clinical behaviour ranges from mild to disseminated and, sometimes, life-threatening forms. The incidence of this diseases is much smaller, then the incidence of diseases derived from lymphocytic or myeloid lineage. Langerhans cell histiocytosis is most frequent disease from this group. The last version of WHO classification from 2017 and last version of classification published by Histiocyte Society is summarised in this paper.
Erdheim–Chester disease (ECD) is a rare clonal histiocytic neoplasm with less than 1200 documented cases to date. The disease is life-threatening and difficult to recognize, although increasing awareness as well as the integration of clinical, imaging, pathology information and genetic studies have led to a recent exponential increase in new reported cases.. ECD affects multiple organs and systems, including skeletal, neurologic, and cardiovascular. Pulmonary, retroperitoneal, and cutaneous lesions have also been reported in various combinations. Until the discovery that more than half of ECD patients harbor the BRAF-V600E mutation or other mutations in the mitogen-activated protein kinase (MAPK) and RAS pathways, Interferon-a was the first-line treatment. Nowadays BRAF- and MEK-inhibitors targeted therapies are the mainstay of treatment. Ophthalmologic involvement occurs in 25-30% of ECD cases, usually in the form of orbital involvement presenting with exophthalmos and ophthalmoplegia. Other ophthalmologic manifestations include palpebral xanthelasmas, anterior uveitis and vitritis, optic disk edema, choroidal infiltration, recurrent serous retinal detachment, retinal drusen–like deposits and etinal pigment epithelial changes. ECD patients can also present with ocular symptoms as a result of adverse effects of the treatment regimens. In some cases with smoldering or protean symptoms, the emergence of eye manifestations triggered the diagnosis. Ophthalmologists have to be aware of the disease, recognize the constellation of ECD symptoms, and contribute to the diagnosis, treatment, and follow-up of ECD patients.
Three adult patients with confirmed Erdheim-Chester disease (ECD) are followed at our department. Cladribine in monotherapy or in combination with cyclophosphamide were used for first line therapy. The median number of cycles of cladribine or cladribine and cyclophosphamide was 7 (range 6-8). In two cases complete response was achieved, in one case this therapy achieved no response. The duration of response is in one case 11 years, in second case the follow up is too short for evaluation of response duration. In case of no-response to cladribine and cyclophosphamide stabilisation of disease was achieved with anakinra. The tolerance was good without any toxicity grade II and higher. Cladribin and cyclophosphamide is one option for treatment of Erdheim-Chester disease.
Objective:
Central nervous system (CNS) involvement in Erdheim-Chester disease (ECD) leads to significant morbidity and mortality. To assess CNS manifestations in a French cohort of 253 ECD patients, we determined clinical characteristics and outcomes, including those under targeted therapies.
Methods:
This was a retrospective longitudinal study. CNS manifestations were determined by clinical examination and brain and/or spine magnetic resonance imaging (MRI). Targeted therapy efficacy was assessed using global assessment from a physician and a radiologist. The study was approved by the ethics committee, Comité de Protection des Personnes Ile de France III.
Results:
Ninety-seven (38%) of 253 ECD patients had CNS involvement. CNS involvement was significantly associated with a younger age at diagnosis (mean 55.5 years) and at symptom onset (mean 50.5 years), as well as with the presence of the BRAFV600E mutation (in 77% of cases), xanthelasma (34%), and diabetes insipidus (36%). Median survival among patients with CNS involvement was significantly lower than that of ECD patients without CNS involvement (124 months versus 146 months, p=0.03). Seventy-four CNS MRIs were centrally reviewed, which showed 3 patterns: tumoral in 66%, pseudo-degenerative in 50%, and vascular in 18%. Targeted therapy (BRAF and/or MEK inhibitors) was associated with improved symptoms in 43% of patients and MRI improvement in 45%.
Conclusions:
CNS manifestations are typically associated with poor prognosis in ECD patients. Three distinct patterns can be recognized: tumoral, pseudodegenerative, and vascular. This study provides class III evidence that targeted therapy leads to clinical and/or imaging improvement in almost 50% of patients.
Hypophysitis is a rare entity characterized by inflammation of the pituitary gland and its stalk that can cause hypopituitarism and/or mass effect. Etiology can be categorized as primary or secondary to systemic disease, but may also be classified according to anatomical and hispathological criteria. Newly recognized causes of hypophysits have been described, mainly secondary to immunomodulatory medications and IgG4-related disease. Diagnosis is based on clinical, laboratory and imaging data, whereas pituitary biopsy, though rarely indicated, may provide a definitive histological diagnosis. For the clinician, obtaining a broad clinical and drug history, and performing a thorough physical examination is essential. Management of hypophysitis includes hormone replacement therapy if hypopituitarism is present and control of the consequences of the inflammatory pituitary mass (e.g. compression of the optic chiasm)using high-dose glucocorticoids, whereas pituitary surgery is reserved for those unresponsive to medical therapy and/or have progressive disease. However, there remains an unmet need for controlled studies to inform clinical practice.
