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      Case of Erdheim–Chester presenting with xanthelasma-like eruption and osteolytic bone lesions: A case report

      case-report

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          Abstract

          Erdheim–Chester disease is a rare multisystemic non-Langerhans cell histiocytosis presenting 95% with skeletal lesions. Erdheim–Chester disease is due to mutations in the RAS-MEK-ERK pathway where 50% are due to BRAF-V600E mutations. Typical histopathological, clinical, and radiologic features are necessary for the diagnosis of Erdheim–Chester disease. Prognosis depends on the extent of the systemic involvement, and central nervous system involvement has a poorer outcome. We present a 30-year-old Moroccan woman with diabetes insipidus, bone marrow, and asymmetrical axial osteolytic bone lesions. Biopsies were consistent with Erdheim–Chester disease. Despite no treatment, the patient has demonstrated clinical improvement.

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          High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.

          Julien Haroche, Frédéric Charlotte, Laurent Arnaud … (2012)
          Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis. BRAF mutations have been observed in Langerhans cell histiocytosis (LCH). We investigated the frequency of BRAF mutations in several types of histiocytoses. Histology from 127 patients with histiocytoses were reviewed. Detection of BRAF(V600) mutations was performed by pyrosequencing of DNA extracted from paraffin embedded samples. Diagnoses of Erdheim-Chester disease (ECD), LCH, Rosai-Dorfman disease, juvenile xanthogranuloma, histiocytic sarcoma, xanthoma disseminatum, interdigitating dendritic cell sarcoma, and necrobiotic xanthogranuloma were performed in 46, 39, 23, 12, 3, 2, 1, and 1 patients, respectively. BRAF status was obtained in 93 cases. BRAF(V600E) mutations were detected in 13 of 24 (54%) ECD, 11 of 29 (38%) LCH, and none of the other histiocytoses. Four patients with ECD died of disease. The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases. Treatment with vemurafenib should be investigated in patients with malignant BRAF(V600E) histiocytosis.
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            Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease.

            Kenneth McClain, Julien Haroche, Valentina Elisabetta Viviana Ferrero … (2014)
            Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis. Recent findings suggest that ECD is a clonal disorder, marked by recurrent BRAFV600E mutations in >50% of patients, in which chronic uncontrolled inflammation is an important mediator of disease pathogenesis. Although ∼500 to 550 cases have been described in the literature to date, increased physician awareness has driven a dramatic increase in ECD diagnoses over the last decade. ECD frequently involves multiple organ systems and has historically lacked effective therapies. Given the protean clinical manifestations and the lack of a consensus-derived approach for the management of ECD, we provide here the first multidisciplinary consensus guidelines for the clinical management of ECD. These recommendations were outlined at the First International Medical Symposium for ECD, comprised of a comprehensive group of international academicians with expertise in the pathophysiology and therapy of ECD. Detailed recommendations on the initial clinical, laboratory, and radiographic assessment of ECD patients are presented in addition to treatment recommendations based on critical appraisal of the literature and clinical experience. These formalized consensus descriptions will hopefully facilitate ongoing and future research efforts in this disorder.
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              CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients.

              J. Casper, B Aaron, Jean-Gabriel Fuzibet … (2011)
              Erdheim-Chester disease (ECD) is a rare form of non-Langerhans histiocytosis, with noncodified therapeutic management and high mortality. No treatment has yet been shown to improve survival in these patients. We conducted a multicenter prospective observational cohort study to assess whether extraskeletal manifestations and interferon-α treatment would influence survival in a large cohort of ECD patients. To achieve this goal, we thoroughly analyzed the clinical presentation of 53 patients with biopsy-proven ECD, and we performed a survival analysis using Cox proportional hazard model. Fifty-three patients (39 men and 14 women) with biopsy-proven ECD were followed up between November 1981 and November 2010. Forty-six patients (87%) received interferon-α and/or PEGylated interferon-α. Multivariate survival analysis using Cox proportional hazard model revealed that central nervous system involvement was an independent predictor of death (hazard ratio = 2.51; 95% confidence interval, 1.28-5.52; P = .006) in our cohort. Conversely, treatment with interferon-α was identified as an independent predictor of survival (hazard ratio = 0.32; 95% confidence interval, 0.14-0.70; P = .006). Although definitive confirmation would require a randomized controlled trial, these results suggest that interferon-α improves survival in ECD patients. This may be seen as a significant advance, as it is the first time a treatment is shown to improve survival in this multisystemic disease with high mortality.
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                Author and article information

                Journal
                Journal ID (nlm-ta): SAGE Open Med Case Rep
                Journal ID (iso-abbrev): SAGE Open Med Case Rep
                Journal ID (publisher-id): SCO
                Journal ID (hwp): spsco
                Title: SAGE Open Medical Case Reports
                Publisher: SAGE Publications (Sage UK: London, England )
                ISSN (Electronic): 2050-313X
                Publication date (Electronic): 06 May 2019
                Publication date Collection: 2019
                Volume: 7
                Electronic Location Identifier: 2050313X19845217
                Affiliations
                [1 ]Faculty of Medicine, CHU de Québec-Université Laval, Québec, QC, Canada
                [2 ]Division of Dermatology, Department of Medicine, Hôpital du Saint-Sacrement, CHU de Québec-Université Laval, Québec, QC, Canada
                [3 ]Department of Anatomic Pathology, Hôpital du Saint-Sacrement, CHU de Québec-Université Laval, Québec, QC, Canada
                Author notes
                [*]Evelyn Alarcon Chinchilla. CHUQ-Hôpital du Saint-Sacrement, Medicine department, Dermatology Division, 1050 chemin Ste-Foy, Québec, Qc G1S 4L8, Canada. Email: evelyn.alarcon-chinchilla.2@ 123456ulaval.ca
                Article
                Publisher ID: 10.1177_2050313X19845217
                DOI: 10.1177/2050313X19845217
                PMC ID: 6503601
                SO-VID: 4679ad74-b0de-406d-9149-2fe96dbbd4fc
                Copyright © © The Author(s) 2019
                License:

                This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License ( http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages ( https://us.sagepub.com/en-us/nam/open-access-at-sage).

                History
                Categories
                Subject: JCMS Case Report
                Custom metadata
                cover-date January-December 2019

                Keywords: erdheim–chester,non-langerhans histiocytosis,xanthelasma,vemurafenib,interferon-α
                Data availability:
                Keywords: erdheim–chester, non-langerhans histiocytosis, xanthelasma, vemurafenib, interferon-α

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