Dysplasia Epiphysealis Hemimelica

At a glance

Uncommon skeletal developmental disorder affecting the epiphysis in the form of aberrant cartilage growth in children. The usual symptoms are the appearance of an osseous protuberance on one side of the knee, ankle or foot joint that gradually increases. Radiologically, the condition shows a nonuniformity of growth and multiple unconnected ossification centers around the epiphyses.

Synonyms

Trevor Disease; Fairbank’s Disease; Trevor’s Disease; Tarsomegaly; Tarsoepiphyseal Aclasia Syndrome.

History

Trevor disease was first described in 1926 by Albert Mouchet, a French surgeon and J Belot. In 1956, the name “dysplasia epiphysealis hemimelica” was proposed by Fairbank.

Incidence

Estimated to be approximately 1:1,000,000 live births. More than 120 cases have been reported in the literature since the first description in 1926. Male-to-female ratio is 3:1.

Genetic inheritance

The cause of Dysplasia Epiphysealis Hemimelica (DEH) is unknown. There is no evidence that hereditary factors play a role in the development of the disorder. There are no reports of malignant transformation of the cartilage overgrowth.

Pathophysiology

Etiology is unknown, but the pathogenesis and histology are identical to osteochondromas. In fact, this disease is considered to be a variant of osteochondroma occurring in the joint. Abnormal cartilage proliferation in the epiphysis is associated with enchondral ossification before ossification is complete. A cartilage cleavage zone can be found between the ossification centers of the lesion and the epiphysis.

Clinical aspects

Age at onset is usually between 1 and 15 years. Most cases are diagnosed before the age of 8 years. Males are affected more often than females. Patients usually present with unilateral, most often painless, asymmetrical swelling on one side of a lower limb joint, most often the knee or ankle (talus, tarsonavicular, or first cuneiform joints). Other anatomical sites affected by the disease are the upper limbs, sacroiliac joint, and acetabulum. Multiples of these chondromas may be present. Deformity of the limb, differences in length, or a limp may be the initial symptoms. In suspected cases, the diagnosis is confirmed by imaging studies of the affected limb. Most often, the medial portion of the epiphysis is involved. Treatment is surgical, but recurrence is common.

Anesthetic considerations

No specific considerations for this condition.

Other condition to be considered

• ☞Maffucci Syndrome: Association of skeletal lesions (enchondromatosis) and soft tissue hemangiomas, often involving the head and neck. There are major anesthetic implications.

References