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

Abstract

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.

Keywords

Erdheim chester disease / non-Langerhans histiocytosis / BRAF mutations

CONFLICTS OF INTEREST DISCLOSURE

We declare that we have no conflict interests.

References

[1] Chester W. Uber Lipoidgranulomatose. Virchows Arch Pathol Anat. 1930; 279: 561-602. https://doi.org/10.1007/BF01942684

[2] Haroche J, Arnaud L, Amoura Z. Erdheim-Chester disease. Curr Opin Rheumatol. 2012; 24: 53-9. PMid:22089098. https://doi.org/10.1097/BOR.0b013e32834d861d

[3] Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, et al. Erdheim- Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore). 1996; 75: 157-69. PMid:8965684. https://doi.org/10.1097/00005792-199605000-00005

[4] Murray D, Marshall M, England E, et al. Erdheim-Chester disease. Clin Radiol. 2001; 56: 481-484. PMid:11428798. https://doi.org/10.1053/crad.2001.0681

[5] Arnaud L, Hervier B, Neel A, et al. CNS involvement and treatment with interferon-alpha are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011; 117: 2778-2782. PMid:21239701. https://doi.org/10.1182/blood-2010-06-294108

[6] Wilejto M, Abla O. Langerhans cell histiocytosis and Erdheim- Chester disease. Curr Opin Rheumatol. 2012; 24(1): 90-96. PMid:22157416. https://doi.org/10.1097/BOR.0b013e32834db53e

[7] Haroche J, Amoura Z, Dion E, et al. Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease:report of 6 new cases and a literature review. Medicine (Baltimore). 2004; 83: 371-392. PMid:15525849. https://doi.org/10.1097/01.md.0000145368.17934.91

[8] Munoz J, Janku F, Cohen PR, et al. Erdheim-Chester disease: characteristics and management. Mayo Clin Proc. 2014; 89: 985-996. PMid:24814521. https://doi.org/10.1016/j.mayocp.2014.01.023

[9] Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for the evaluation, diagnosis, and treatment in the molecular era. Blood. 2020; 135: 1929-45. PMid:32187362. https://doi.org/10.1182/blood.2019003507

[10] Emile JF, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineges. Blood. 2016; 127: 2672-81. PMid:26966089. https://doi.org/10.1182/blood-2016-01-690636

[11] Breuil V, Brocq O, Pellegrino C, et al. Erdheim-Chester disease: typical radiological bone features for a rare xanthogranulomatosis. Ann Rheum Dis. 2002; 61(3): 199-200. PMid:11830422. https://doi.org/10.1136/ard.61.3.199

[12] Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature. 2002; 417(6892): 949-954. PMid:12068308. https://doi.org/10.1038/nature00766

[13] Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012; 120(13): 2700-2703 PMid:22879539. https://doi.org/10.1182/blood-2012-05-430140

[14] Cangi MG, Biavasco R, Cavalli G, et al. BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease [published online ahead of print Mar 26, 2014]. Ann Rheum Dis.

[15] Nayak L. From inflammation to cancer: entering a new frontier in the management of Erdheim-Chester disease. Neuro-oncology. 2020; 22(7): 905-906. PMid:32343812. https://doi.org/10.1093/neuonc/noaa110