Dysplasia Epiphysealis Hemimelica Workup

Updated: Jun 07, 2018
  • Author: David A Forsh, MD; Chief Editor: Harris Gellman, MD  more...
  • Print
Workup

Imaging Studies

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, typically is well demonstrated on plain radiography; however, computed tomography (CT) or magnetic resonance imaging (MRI) may provide additional anatomic detail. [30]

Plain radiography may reveal early focal calcification of the affected site, with later appearance of an irregular bony enlargement that becomes fused to the affected epiphysis. [34] (See the images below.)

Lateral view of left foot. Medial ankle and subtal Lateral view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Anteroposterior view of left foot. Medial ankle an Anteroposterior view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Oblique view of left foot. Medial ankle and subtal Oblique view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Anteroposterior view of left ankle of 12-year-old Anteroposterior view of left ankle of 12-year-old boy. Medial ankle and subtalar joints and first metatarsophalangeal joints have large epiphyseal osteocartilaginous growths causing significant anatomic changes and clinical symptoms. Large lesion at first metatarsophalangeal joint required excision.
Anteroposterior view of left ankle of 12-year-old Anteroposterior view of left ankle of 12-year-old boy. Medial ankle and subtalar joints and first metatarsophalangeal joints have large epiphyseal osteocartilaginous growths causing significant anatomic changes and clinical symptoms. Large lesion at first metatarsophalangeal joint required excision.
Three-dimensional reconstruction images of left fo Three-dimensional reconstruction images of left foot (seen in radiographs of 12-year-old boy's foot) better demonstrate numerous epiphyseal abnormalities, especially at lateral tibial-talar and first metatarsal-phalangeal joints. Entire subtalar joint is also involved. Smaller irregularities are seen in nearly all epiphyses of foot.
Three-dimensional reconstruction images of left fo Three-dimensional reconstruction images of left foot (seen in radiographs of 12-year-old boy's foot) better demonstrate numerous epiphyseal abnormalities, especially at lateral tibial-talar and first metatarsal-phalangeal joints. Entire subtalar joint is also involved. Smaller irregularities are seen in nearly all epiphyses of foot.

CT can assist in defining the anatomic relation between the mass and its parent bone, and it is also useful for evaluating the condition of the articular cartilage and soft tissue. [35]

MRI depicts the unossified cartilaginous mass in great detail, as well as the status of the articular cartilage, and it helps differentiate abnormal epiphyseal growth from the main epiphysis. [13, 15, 30, 34, 36]

Double-contrast arthrography can assist in delineating joint space deformity, the extent of a cartilaginous mass, and the joint dynamic, but it is an invasive diagnostic tool.

Next:

Histologic Findings

Macroscopically, the bone enlargement caused by DEH is consistent with an exostosis and normal hyaline cartilage.

Microscopically, the histologic appearance of the lesion is that of a well-defined cartilage cap over projecting bone that is contiguous with the underlying normal bone and strongly resembles that of a benign osteochondroma. Whereas a typical osteochondroma arises from the metaphysis or diaphysis, DEH arises from the epiphysis. [2]  A histologic comparative study by Stevens et al found both morphologic and immunohistologic differences between DEH and osteochondromas in histologic sections. [37]

The basic pathologic process in DEH appears to be abnormal cartilage proliferation in an epiphysis with associated enchondral ossification before complete ossification. A cleavage area of cartilage is present between the ossification center in the lesion and that of the epiphysis. [4]

Previous