Osteopoikilosis

"Spotted Bone Disease"

 

General Considerations

• Rare autosomal dominant or sporadic osteosclerotic dysplasia
• Multiple punctate sclerotic lesions representing "bone islands" or foci of compact bone located in cancellous bone
• Asymptomatic
• Occurs in the epiphyses and metaphyses with predilection for
  • Tubular bones of the hands and feet
  • Carpals
  • Tarsals
  • Pelvis
  • Scapula
• Ribs, clavicles, spine, and skull are rarely involved
• Usually clustered around joints
• Males and females affected equally

Clinical Findings

• Asymptomatic
• Diagnosis is usually made incidentally

Imaging Findings

• Well-defined sclerotic lesions clustered symmetrically around joints
• The long axis of the lesion is typically lined-up with the long axis of the bone
• Bone islands may have a thorny appearance
• Low signal intensity on T1 and T2 weighted MRI images
• Bone scan is normal

Differential Diagnosis

• Osteoblastic metastatic disease
  • Osteopoikilosis is symmetrical, periarticular and the lesions are uniform in size
• Tuberous sclerosis
• Mastocytosis

Treatment

• None required

Complications

• Associations may include connective tissue nevi called dermatofibrosis lenticularis disseminate which, along with osteopoikilosis, comprises the Buschke-Ollendorff syndrome
• Also associated with keloid formation, dwarfism, spinal stenosis, dystocia, tuberous sclerosis and scleroderma
• It may be related to osteopathia striata and melorheostosis