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Updated: Jun 22 2022

Dysplasia Epiphysealis Hemimelica (Trevor's Disease)

Images - knee - colorado_moved.jpg ct.jpg ct 2.jpg
  • summary
    • Dysplasia Epiphysealis Hemimelica, also known as Trevor's Disease, is a rare congenital bone dysplasia caused by the development of an osteochondroma in the epiphysis that presents with asymmetrical limb deformity. 
    • Diagnosis is made with radiographs of the affected joint. 
    • Treatment is usually surgical excision of the lesion in early symptomatic disease. 
  • Epidemiology
    • Incidence
      • extremely rare
        • estimated at ~ 1:1,000,000
    • Demographics
      • recognised male predilection
      • usually presents in young children
    • Anatomic location
      • most common in knee or ankle
      • usually only involves one joint
  • Etiology
    • Pathophysiology
      • caused by a defect in the Groove of Ranvier
      • asymmetrical limb deformity due to localized overgrowth of cartilage
    • Genetic
      • non hereditary
  • Presentation
    • Symptoms
      • asymmetrical limb deformity
      • joint symptoms
    • Physical exam
      • decreased motion
      • joint line tenderness
  • Imaging
    • Radiographs
      • may see calcification at the joint line
    • CT
      • useful for assessing cortical continuity with the epiphysis
  • Studies
    • Histology
      • similar to osteochondroma
      • diagnosis of DEH is made with the location of the osteochondroma, specifically located in the epiphysis of the involved bone
  • Treatment
    • Operative
      • excision of overgrowth
        • indications
          • symptomatic early disease
      • osteotomies
        • indications
          • symptomatic late stage disease
  • Complications
    • Recurrence
      • a common complication following excision
  • Prognosis
    • May lead to early osteoarthritis of affected joint
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