Dysplasia Epiphysealis Hemimelica Clinical Presentation

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

History and Physical Examination

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, most commonly occurs around the knee, talus, and the tarsal navicular and first cuneiform joints. Common manifestations include the following [23, 24] :

  • Osseous lesion at the epiphysis of a bone in the lower extremity (though upper extermities may be involved as well) that slowly increases in size until skeletal maturity
  • Pain
  • Swelling
  • Stiffness
  • Restriction of range of motion (ROM)

Most patients present with painless swelling or a mass on one side of a joint, limitation of motion, angular deformity, concomitant regional muscle wasting, and, occasionally, recurrent locking of the joint. Typically, only one half of the epiphysis is involved; however, involvement of the entire epiphysis has been described. [9, 20, 25] The medial side of the epiphysis is most commonly affected. [10, 26, 27, 28]

The most common presenting symptom is the presence of a mass with the consistency of bone. Deformity, aching pains, and limited ROM may accompany the mass presentation. [9, 10, 29, 30] Lengthening or shortening of the affected limb, regional muscle atrophy, genu valgum, genu varum, or equinus of the ankle may also be present; multiple-site involvement in a single limb is reported in the majority of cases. [29, 31, 25, 32]  On physical examination, involved joints commonly exhibit decreased ROM, joint stiffness, and tenderness to palpation.

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Classification

Azouz et al classified DEH into the following clinical types [33] :

  • Localized DEH, which involves only one epiphysis
  • Classic DEH (most common), which affects more than one area in a single limb
  • Generalized DEH, which affects the whole lower limb, from the pelvis to the foot
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