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
Mafucci Syndrome: Association of skeletal lesions
(enchondromatosis) and soft tissue hemangiomas, often involving the head and
neck. Major anesthetic implications.
Keret D, Spatz DK, Caro PA, et al: Dysplasia epiphysealis hemimelica:
Diagnosis and treatment. J Pediatr Orthop
Segal LS, Vrahas MS, Schwentker EP: Dysplasia epiphysealis hemimelica of the
sacroiliac joint, a case report. Clin Orthop