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Histiocytic and Dendritic Cell Neoplasms
Published in Dongyou Liu, Tumors and Cancers, 2017
Classified along with mature B-cell neoplasms, mature T and NK neoplasms, Hodgkin lymphoma, and post-transplant lymphoproliferative disorders (PTLD) under the mature lymphoid, histiocytic, and dendritic neoplasms category, histiocytic and dendritic cell neoplasms consist of (i) histiocytic sarcoma (HS), (ii) Langerhans cell histiocytosis (LCH), (iii) Langerhans cell sarcoma (LCS), (iv) indeterminate dendritic cell tumor (IDCT), (v) interdigitating dendritic cell sarcoma (IDCS), (vi) follicular dendritic cell sarcoma (FDCS), (vii) disseminated juvenile xanthogranuloma (DJX), and (viii) Erdheim–Chester disease (ECD) (Table 27.1) [1].
Rare forms of interstitial lung disease
Published in Muhunthan Thillai, David R Moller, Keith C Meyer, Clinical Handbook of Interstitial Lung Disease, 2017
Erdheim–Chester disease (ECD) is a rare non-Langerhans histiocytic disorder with multiorgan involvement characterized by tissue infiltration with foamy histiocytes along with interspersed inflammatory cells and multinucleated giant cells (Touton cells) (94–96). The aetiology of ECD remains unclear. It is not an infectious or inheritable disorder. Chronic uncontrolled inflammation appears to be a dominant process with evidence of intense systemic immune activation. Somatic mutations in the BRAF gene (BRAF V600E mutation) were recently identified in over one-half of patients with ECD (97,98).
Pulmonary Eosinophilia
Published in Philip T. Cagle, Timothy C. Allen, Mary Beth Beasley, Diagnostic Pulmonary Pathology, 2008
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis that typically presents as symmetrical sclerosis involving the diaphyseal aspects of long bones. Extraosseous lesions may be present. Lesions of Erdheim-Chester diseases typically consist of a proliferation of large histiocytes with abundant pale staining eosinophilic to foamy cytoplasm associated with a variable lymphoplasmacytic infiltrate and fibrosis (84). In Erdheim-Chester disease, histiocytes may stain variably positively for S100, but in contrast to Langerhans cells, lack staining for CD1a (84).
IgG4-related ophthalmic disease in association with adult-onset asthma and periocular xanthogranuloma: a case report
Published in Orbit, 2023
Brigitte M. Papa, H. Miles Prince, Alan A. McNab, Penny McKelvie
Adult xanthogranulomatous disease (XG) of the orbit and ocular adnexa comprises a heterogeneous group of rare fibroinflammatory disorders presenting with orbital masses and often xanthelasma-like lesions of the eyelids.1 There are four distinct subtypes: 1) adult onset xanthogranulomatous disease of the orbit (AOX), 2) adult-onset asthma with peri-ocular xanthogranuloma (AAPOX), 3) necrobiotic xanthogranuloma (NXG), and 4) Erdheim–Chester disease (ECD).1 AOX is a localised disorder of the peri-ocular soft tissues. AAPOX comprises AOX with additional features of adult-onset asthma, often nasal and paranasal sinus disease and reactive lymphadenopathy.1 NXG characteristically presents with periorbital subcutaneous skin lesions, which tend to ulcerate, and histological features of necrobiosis with palisading necrosis.1 ECD can affect the orbit, typically posteriorly, and often has systemic manifestations.1 It has been found to have activating mutations within the MAPK pathway, in particular, BRAF V600E mutations in more than 60% of the cases.2 Compared to the other subtypes of adult XG, ECD has a worse prognosis, but this has been improved with treatment with vemurafenib, a BRAF inhibitor.3 The stereotypical pathological features of XG include an infiltration of foamy xanthomatous macrophages and Touton giant cells.1
Successful treatment of central nervous system involved Erdheim–Chester disease by intermediate-dose cytarabine as first-line therapy
Published in Acta Oncologica, 2020
Ji-Nuo Wang, Yu Qiu, Na Niu, Yan Zhang, Jian Li, Dao-bin Zhou, Xin-Xin Cao
Erdheim–Chester disease (ECD) is a rare non-Langerhans histiocytosis with a broad, nonspecific clinical spectrum from asymptomatic to life-threatening multi-organ involvement [1,2]. Diagnosis of ECD is made with histology and phenotype of histiocytes in appropriate clinical and radiological context [3]. Somatic activating mutations of BRAFV600E are detected in 50–70% ECD patients [2,4,5]. The BRAF inhibitor vemurafenib has shown dramatic clinical and radiographic efficacy and changed the initial treatment strategy [6]. However, the estimated annual cost of vemurafenib is approximately 50,000 dollars in China, which largely restricts its availability for most Chinese patients. Historically, IFN-α has been widely used with variable efficacy as the treatment for ECD [7]. The estimated annual cost of IFN-α is approximately 1600 dollars in China, and the relatively low price makes it the first option for ECD patients in low-income countries. ECD with central nervous system (CNS) involvement is related to poor prognosis [8]. We found that IFN-α treatment did not change CNS involvement as a single predictor for poor survival [5]. Therefore, new treatment strategies are urgently needed for ECD patients with CNS involvement.
Erdheim–Chester disease and vemurafenib: a review of ophthalmic presentations and clinical outcomes
Published in Orbit, 2023
Ji Kwan Park, Laura C. Huang, Andrea L. Kossler
Erdheim–Chester Disease typically presents in the 4th and 7th decades of life, predominantly in males (male: female ratio, 3:1), with bone pain, polyuria, polydipsia, and polyphagia, consistent with diabetes insipidus. Constitutional symptoms, sinusitis, and ataxia may be present on the initial visit.1,2 In about one-third of patients with ECD, orbital and ocular infiltration can occur and result in bilateral painless proptosis and progressive vision loss over months to years.1–3,5,13 The visual acuity at presentation may vary from 20/20 to no light perception.5,6,14–20 Unilateral or asymmetric compression of the optic nerve may result in relative afferent pupillary defects.19 Although diplopia appears to be less commonly reported in the literature, restrictions in extraocular movements are often found on initial exams.17 Xanthelasmas may occur in up to 22–27% of patients and demonstrate diagnostic foamy macrophages, inflammatory cells, and Touton giant cells on biopsy.1–3 On radiological images, the retro-orbital masses may be found in 20–37% of the patients with ECD and are commonly bilateral in intraconal and extraconal spaces.14 Intraocular manifestations are rare but often cause vision loss when the macula is involved.5,14,16,18,20 Subretinal and choroidal infiltrative lesions may be accompanied by subretinal fluid, retinal detachments, and choroidal neovascular membranes (CNVM).5,6,14,16,18,20 Optic disc edema and peripapillary hemorrhage are thought to be the sequelae of compressive ischemic changes from the expansion of the intraconal masses.17,19