Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation

Mahshid Golagha, MD; Fatemeh Dehghani Firouzabadi, MD; Corina Millo, MD; Moozhan Nikpanah, MD; Mark A. Ahlman, MD; Rahul H. Dave, MD; Juvianee I. Estrada-Veras, MD; Kevin O'Brien, MS-CRNP; Ashkan A. Malayeri, MD

Radiology Case Reports (May 2024)

Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation

Mahshid Golagha, MD,
Fatemeh Dehghani Firouzabadi, MD,
Corina Millo, MD,
Moozhan Nikpanah, MD,
Mark A. Ahlman, MD,
Rahul H. Dave, MD,
Juvianee I. Estrada-Veras, MD,
Kevin O'Brien, MS-CRNP,
Ashkan A. Malayeri, MD

Affiliations

Mahshid Golagha, MD: Urologic Oncology Branch, National Cancer Institute (NCI), National Institutes of Health, Bethesda, MD, USA
Fatemeh Dehghani Firouzabadi, MD: Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA
Corina Millo, MD: Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA
Moozhan Nikpanah, MD: Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA; Department of Radiology, University of Alabama at Birmingham, Birmingham, AL, USA
Mark A. Ahlman, MD: Department of Radiology and Imaging, Augusta University, Augusta, GA, USA
Rahul H. Dave, MD: MS & Neuroimmunology Center, INOVA Neurosciences Institute, Fairfax, VA, USA; National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, National Institutes of Health, Bethesda, MD, USA
Juvianee I. Estrada-Veras, MD: National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, National Institutes of Health, Bethesda, MD, USA
Kevin O'Brien, MS-CRNP: National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, National Institutes of Health, Bethesda, MD, USA; Corresponding authors.
Ashkan A. Malayeri, MD: Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA; Corresponding authors.

Journal volume & issue: Vol. 19, no. 5
pp. 1866 – 1871

Abstract

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Erdheim-Chester disease (ECD) is a rare histiocytic disease that affects multiple systems in the body. While it typically targets long bones, cardiovascular structures, the retroperitoneum, and the central nervous system, reports of tendon and skeletal muscle involvement are scarce. This review presents 2 cases: a case of ECD involving the left Achilles tendon and left abductor hallucis, as well as an unusual manifestation of ECD in the thigh musculature. In Case 1, studies involved a 39-year-old man who initially presented with bone and pituitary involvement. An order for 18F-FDG PET/CT imaging was placed by marked swelling in the patient's left ankle and observed soft tissue fullness on foot radiographs, which revealed a soft tissue mass involving the left Achilles tendon, which arose along the tendon-muscle junction and involved the left abductor hallucis muscle. In Case 2, studies involved a 41-year-old man who initially presented with involvement of the cardiovascular system and retroperitoneum. 18F-FDG PET/CT scan showed an infiltrative right atrial mass and hypermetabolic lesion in the left external obturator muscle, extending to the left pectineus and right quadratus femoris muscle. Involvement of the Achilles tendon and skeletal muscle involvement, including left abductor hallucis muscle and medial thigh muscles, is one of the rare manifestations of ECD. Diagnostic delays were frequent due to the condition's rarity and nonspecific multisystemic symptoms. This should be considered in patients who present with myositis, tendinopathy, and bone pain and have other unexplained multisystemic problems.

Published in Radiology Case Reports

ISSN: 1930-0433 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General): Medical physics. Medical radiology. Nuclear medicine
Website: https://www.sciencedirect.com/journal/radiology-case-reports

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