Dysplasia Epiphysealis Hemimelica 

  • Author: Khalid A Bakarman, MD, MB, BCh, SBIO; Chief Editor: Harris Gellman, MD   more...
 
Updated: May 6, 2010
 

Background

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]

An image depicting DEH can be seen below.

Anteroposterior and lateral radiographs of the rigAnteroposterior 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.
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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.

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Epidemiology

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.

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Etiology

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

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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]

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Presentation

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, 15, 16]

The differential diagnoses include chondroblastoma, osteochondroma, and enchondroma.[5, 10, 11, 17]

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Indications

DEH should be treated if the lesion is causing deformity, pain, or interference with function. Most cases are treated surgically.[18, 19, 20]

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Contraindications

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

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Contributor Information and Disclosures
Author

Khalid A Bakarman, MD, MB, BCh, SBIO  Pediatric Orthopedic Consultant, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia

Disclosure: Nothing to disclose.

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

Disclosure: Nothing to disclose.

Specialty Editor Board

Howard A Chansky, MD  Associate Professor, Department of Orthopedics and Sports Medicine, University of Washington Medical Center

Howard A Chansky, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Sean P Scully, MD, PhD  Professor, Department of Orthopedics, University of Miami

Sean P Scully, MD, PhD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, International Society on Thrombosis and Haemostasis, and Society of Surgical Oncology

Disclosure: Nothing to disclose.

Dinesh Patel, MD, FACS  Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital

Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

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

Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, and Arkansas Medical Society

Disclosure: Nothing to disclose.

References

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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.
Anteroposterior radiograph of a child at age 7 years (same patient as in the image above). 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.
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.
 
 
 
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