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Indications
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AUTHOR AND EDITOR INFORMATION

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Author: Khalid Bakarman, MD, pediatric orthopedic consultant, Department of Orthopedic Surgery, king khalid university hospital, Riyadh.KSA

Coauthor(s): Robert Mervyn Letts, MD, FRCS(C), FACS, Former Chief, Department of Surgery, Division of Pediatric Orthopedics, Children's Hospital of Eastern Ontario, University of Ottawa; Consultant Pediatric Orthopedic Surgeon, Sheikh Khalifa Medical City, UAE

Editors: Howard A Chansky, MD, Associate Professor, Department of Orthopedics and Sports Medicine, University of Washington Medical Center; Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine; Sean P Scully, MD, PhD, Professor, Department of Orthopedics, University of Miami; Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital; Harris Gellman, MD, Consulting Surgeon, Broward Hand Center, Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami School of Medicine

Author and Editor Disclosure

Synonyms and related keywords: DEH, Trevor disease, Trevor's disease, tarsoepiphyseal aclasis, tarsomegalie, joint swelling, swollen joint, swollen knee, swollen ankle, talus, tarsal joint, navicular joint, cuneiform joint, articular osteochondroma

INTRODUCTION

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Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, is a rare developmental disorder affecting the epiphyses in young children. The first report of DEH in the literature was by Mouchet and Belot in 1926, who described the condition as a tarsal bone disorder and used the term "tarsomegalie."1 In 1950, Trevor reviewed 10 cases of DEH and used the term "tarsoepiphyseal aclasis."2 In 1956, Fairbank reported 14 cases and coined the term "dysplasia epiphysealis hemimelica."3, 4, 5, 6, 7, 8, 9

DEH is thought to be a variant of osteochondroma arising within a joint.10, 11, 12

Related eMedicine topics:
Osteochondroma and Osteochondromatosis
Solitary Osteochondroma

Related Mescape topics:
Resource Center Arthroplasty
Resource Center Joint Disorders

Problem

DEH is a benign disorder, and no cases of malignant transformation have been reported. The natural history of DEH is that of a lesion that continuously increases in size until skeletal maturity; therefore, the long-term prognosis for untreated lesions involving the weight-bearing surface of the joint, although unreported, is one of a progression toward pain and arthrosis.

Frequency

The incidence of DEH has been estimated at 1 case per million population. It is a rare disorder both in the United States and internationally.

No racial predilection is known to exist. DEH is most commonly found in males, with a male-to-female ratio of 3:1. It usually manifests in childhood and early adolescence.

Etiology

The etiology is unknown; the disease does not appear to be genetically transmitted.

Pathophysiology

The cause of DEH is unknown, but many theories exist. Connor et al suggested that the fundamental defect was an abnormality of the regulation of cartilage proliferation in the affected epiphysis, resulting in cartilaginous exostosis.13 Trevor considered DEH to be a congenital error in epiphyseal development that affects the limb buds during early fetal life; it was thought to involve an altered process of cell proliferation at the superficial zone of articular cartilage, allowing for persistent proliferation and production of a large cartilaginous mass.2 Fairbank suggested that the disorder was caused by a localized disturbance of the preaxial or postaxial apical cap of the limb bud in early fetal development.3, 5

Clinical

DEH most commonly occurs around the knee, talus, and the tarsal navicular and the first cuneiform joints. 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. The medial side of the epiphysis is most commonly affected.4, 14

The differential diagnoses include chondroblastoma, osteochondroma, and enchondroma.5, 10, 11, 15


INDICATIONS

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DEH should be treated if the lesion is causing deformity, pain, or interference with function. Most cases are treated surgically.16, 17, 18


CONTRAINDICATIONS

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Surgery is contraindicated if no medical symptoms or no mechanical block is present.


WORKUP

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Lab Studies

  • No distinctive laboratory abnormalities are associated with DEH.

Imaging Studies

  • 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.
  • Computed tomography (CT) scanning can assist in defining the anatomic relationship between the mass and its parent bone, and it is also useful for evaluating the condition of the articular cartilage and soft tissue.19
  • Magnetic resonance imaging (MRI) depicts the unossified cartilaginous mass in great detail, as well as the status of the articular cartilage, and it helps to differentiate abnormal epiphyseal growth from the main epiphysis.7, 9, 20
  • 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.

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 is indistinguishable from that of an osteochondroma. It is consistent with a benign osteochondroma. The basic pathologic process 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.10

Staging

Azouz et al classified DEH into the following categories21:

  • 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


TREATMENT

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Medical therapy

Supportive joint care, consisting of short-term splinting of the joint, may be beneficial.

Surgical therapy

Most reported cases of DEH in the literature have been treated surgically, with surgical treatment consisting of excision of the mass, as well as correction of any angular deformity, while preserving the integrity of the affected joint as much as possible.22, 23

Follow-up

After surgery, the affected limb requires a short period of immobilization with a cast or splint, followed by active range of motion of the joint.


COMPLICATIONS

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  • Recurrence of the angular deformity after the corrective osteotomy - May be anticipated if the growth plate at the affected joint is open and active and the lesion itself has not been removed20, 24
  • Degenerative osteoarthritis
  • Fixed deformity
  • Leg-length discrepancy4, 24, 25
  • Loose bodies


OUTCOME AND PROGNOSIS

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DEH, although an uncommon condition, can result in considerable disability because of direct involvement of the articular surface of the joint. Treatment with surgical excision offers the best results, but corrective osteotomy and reoperation for recurrent lesion may also be required.26, 27


ACKNOWLEDGMENTS

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The authors express appreciation to Dr. Elias Rahall for his computerized technical assistance in reviewing the world's literature of Dysplasia Epiphysealis Hemimelica.


MULTIMEDIA

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Media file 1:  Anteroposterior and lateral radiographs of the right ankle of a child aged 3.5 years showing a lesion in the medial dome of the talus and the epiphyseal part of fibula. It is causing ankle pain and deformity.
Click to see larger pictureClick to see detailView Full Size Image
Media type:  X-RAY

Media file 2:  Anteroposterior radiograph of a child at age 7 years (same patient as in Image 1). The radiograph depicts an increase in the size of the lesion where it was excised, but it did recur at age 12 years, at which time the lesion was removed.
Click to see larger pictureClick to see detailView Full Size Image
Media type:  X-RAY

Media file 3:  Anteroposterior and lateral radiographs of the right ankle of a child aged 3.5 years revealing a lesion in the medial dome of the talus and the epiphyseal part of fibula. The lesion causes ankle pain and deformity.
Click to see larger pictureClick to see detailView Full Size Image
Media type:  X-RAY


REFERENCES

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Dysplasia Epiphysealis Hemimelica excerpt

Article Last Updated: May 12, 2008