Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterised by osteochondromas arising from the epiphyses.

The incidence is estimated at ~1:1,000,000 3. There is a recognised male predilection (M:F = 3:1). It usually presents in young children.

Classification

Azouz et al. has proposed the following classification:

  • classic form: characteristic hemimelic distribution involving more than one bone or epiphysis within a single lower extremity
  • localised form: single bone affection unilateral or bilateral
  • generalised form: involving the whole limb from pelvis to foot
Aetiology

The aetiology is uncertain but is thought to be congenital.

Location
  • lower extremity is more common than upper extremity
  • distal ends are more affected
  • medial aspects are affected twice as commonly as lateral
  • the distal femur is one of the most frequent sites
  • other sites are around the ankle joint
Radiograph

Typically shows an irregular mass with focal ossification arising from one side of the affected epiphysis 3. This can result in widening of the affected joint.

CT

Useful for assessing cortical continuity with the epiphysis.

MRI

MRI is useful for evaluation of underlying ligaments and cartilages. Osteochondral overgrowth signal intensity will be similar to normal epiphyseal cartilage and bone.

Surgical excision of mass with preservation of joint.

Complications
  • fragmentation and detachment leading to intra-articular bony fragments
  • deformation of the ligaments and tendons affecting the joint mechanism
  • chronic tendonitis and tenosynovitis due to chronic irritation of tendons by mass or bony fragments
  • development of secondary osteoarthritis of affected joint

Bone tumours

The differential diagnosis for bone tumours is dependent on the age of the patient, with a very different set of differentials for the paediatric patient.

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Article Information

rID: 9802
Section: Syndromes
Synonyms or Alternate Spellings:
  • Trevor disease
  • Trevor's disease
  • Dysplasia epiphysealis hemimelica (DEH)

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