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

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.