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Case Report
Clinical and diagnostic imaging manifestations of Erdheim-Chester disease
1 Department of Internal Medicine, Kettering Health Network, Kettering, Ohio, USA
2 Department of Diagnostic Radiology, Kettering Health Network, Kettering, Ohio, USA
3 Kettering Cancer Center, Division of Medical Oncology and Hematology, Kettering, Ohio, USA
4 Wright State University Boonshoft School of Medicine, Dayton, Ohio, USA
5 Department of Ophthalmology, Kettering Health Network, Kettering, Ohio, USA
Address correspondence to:
Roland Gazaille
DO, Department of Diagnostic Radiology, Kettering Health Network, Kettering, Ohio,
USA
Message to Corresponding Author
Article ID: 100079Z10AT2021
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Thau A, Gazaille R, Calvo A, Borchers CE, Warwar R, Boyce W, Blake J. Clinical and diagnostic imaging manifestations of Erdheim-Chester disease. J Case Rep Images Oncology 2021;7:100079Z10AT2021.ABSTRACT
Introduction: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis which typically presents with bilateral masses due to retro-orbital deposition, xanthelasma of the eyelids, cardiopulmonary manifestations, along with sclerosis and cortical thickening of the long bones, particularly in the lower extremities.
Case Report: We present the case of a 58-year-old male who presented to a local emergency department with a one day history of severe dizziness, diaphoresis, dyspnea, and intermittent diplopia. Imaging demonstrated bilateral symmetric retrobulbar masses. Subsequent imaging as well as orbital and bone marrow biopsies lead to the diagnosis of ECD.
Conclusion: Erdheim-Chester disease is a rare form of non-Langerhans-cell histiocytosis. This case demonstrates classic clinical and imaging findings representative of ECD. Diagnostic imaging and pathologic findings play a vital role in the diagnosis and choice of therapy in patients with ECD. Although interferon is currently considered to be first-line therapy, targeted BRAF and MEK inhibitors hold promise for future direction.
Keywords: Erdheim-Chester disease, Histiocytosis, Proptosis, Retrobulbar masses
SUPPORTING INFORMATION
Author Contributions
Avrey Thau - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Roland Gazaille - Conception of the work, Design of the work, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Alejandro Calvo - Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Christina E Borchers - Acquisition of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Ronald Warwar - Acquisition of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
William Boyce - Conception of the work, Design of the work, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Joseph Blake - Conception of the work, Design of the work, Acquisition of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2021 Avrey Thau et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
