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Published on: December 15, 2011
Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation
Mahshid Golagha1, Fatemeh Dehghani Firouzabadi2, Corina Millo2
1Urologic Oncology Branch, National Cancer Institute (NCI), National Institutes of Health, Bethesda, MD, USA.
Insights
Erdheim-Chester disease (ECD) rarely affects tendons and skeletal muscles. This review highlights two cases of ECD involving the Achilles tendon and thigh muscles, emphasizing the need for broader diagnostic considerations.
Area of Science:
- Histiocytic Disorders
- Rare Diseases
- Musculoskeletal System
Background:
- Erdheim-Chester disease (ECD) is a rare multisystemic histiocytic disorder.
- Typical ECD manifestations involve long bones, cardiovascular structures, retroperitoneum, and CNS.
- Tendon and skeletal muscle involvement in ECD are infrequently reported.
Observation:
- Case 1: A 39-year-old man with ECD presented with Achilles tendon and abductor hallucis muscle involvement.
- Case 2: A 41-year-old man with ECD showed thigh muscle involvement (obturator, pectineus, quadratus femoris).
- Both cases utilized 18F-FDG PET/CT for diagnosis.
Findings:
- This review details rare cases of Erdheim-Chester disease affecting the Achilles tendon and skeletal muscles.
- The findings underscore the variability in ECD presentation beyond typical sites.
- Diagnostic delays are common due to ECD's rarity and nonspecific symptoms.
Implications:
- Consider ECD in patients with unexplained myositis, tendinopathy, or bone pain, especially with multisystemic involvement.
- Increased awareness of ECD's musculoskeletal manifestations can improve diagnostic timelines.
- Early diagnosis of Erdheim-Chester disease is crucial for timely management and improved patient outcomes.
Abstract:
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.
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