Dysplasia Epiphysealis Hemimelica

Uncommon skeletal developmental disorder affecting the epiphysis in the form of aberrant cartilage growth in children.

Trevor Disease; Tarsomegaly; Tarsoepiphyseal Aclasis.

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.

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.

Age at onset is usually between 2 and 14 years. 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.

No specific considerations for this condition.

Mafucci Syndrome: Association of skeletal lesions (enchondromatosis) and soft tissue hemangiomas, often involving the head and neck. Major anesthetic implications.