Osteopoikilosis: Understanding a Rare Skeletal Abnormality Through Imaging

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Case Presentation: A Rare Diagnosis

A 38-year-old male presented with mild discomfort in his left wrist, later experiencing similar symptoms in his ankles and pelvic region. Despite concerns, physical examination revealed normal joint mobility without swelling or tenderness. Imaging studies confirmed the presence of multiple well-defined sclerotic lesions, consistent with osteopoikilosis.

Key Radiological Findings

  • Multiple small, round to oval, well-defined radiodensities
  • Symmetric distribution in epiphysis and metaphysis of long bones
  • No cortical erosion or periosteal reaction observed
  • Bone scintigraphy showed mild radiotracer uptake in the left wrist

Understanding Osteopoikilosis

This rare autosomal dominant skeletal dysplasia is linked to a mutation in the LEMD3 gene, affecting bone morphogenetic protein (BMP) and transforming growth factor beta (TGF-β) pathways. Though it affects approximately 1 in 50,000 individuals, it is typically benign and requires no specific treatment beyond reassurance and pain management.

Differential Diagnosis and Clinical Importance

Osteopoikilosis must be distinguished from conditions such as:

  • Osteoblastic metastasis
  • Mastocytosis
  • Synovial chondromatosis

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