Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica

Abstract

Trevor's disease is a rare abnormality characterized by aberrant osteocartilaginous growth from an epiphysis. We describe six new cases from our institution. A patient with isolated tibial tuberosity involvement is described for the first time. Each patient was classified according to Azouz into localized (three), classical (two) and generalized (one) form. We recommend that parents be counseled regarding the progressive nature of this disorder owing to the chance of worsening deformity with surgical excision alone, and the need to be followed until skeletal maturity.

Case Report: Dysplasia Epiphysealis Hemimelica

“…The pathobiologic mechanisms of cartilaginous overgrowth in DEH have not been identified yet [23] and might include blood flow abnormalities of the fetal epiphysis and loss of polarity of the epiphyseal cartilage cells [22]. In addition, the lesions of DEH histologically resemble secondary ossification centers [10,18].…”

“…This is particularly evident in the chronologic series of MR images presented here. Premature epiphyseal closure also may occur [22]. Computed tomography might provide additional information in defining the anatomic relations between the mass and bone in terms of cortical and medullar bone continuity [3,15].…”

“…DEH usually is diagnosed before the age of 15 years and males are affected as much as three times more often than females [22]. The reported incidence is approximately one in 1,000,000 [22]. It presents with three clinical scenarios: localized, affecting the hindfoot or the ankle only; classic, with a hemimelic distribution of the lower extremity; and generalized, involving the whole lower extremity from the pelvis to the foot [4].…”

“…DEH usually is diagnosed before the age of 15 years and males are affected as much as three times more often than females [22]. The reported incidence is approximately one in 1,000,000 [22].…”

“…It is characterized by asymmetric enlargement of the epiphyseal cartilage of long bones without involvement of other organs [22]. It commonly affects the lower extremity (tarsus, distal tibia, and distal femur) on one side of the body and often is restricted to either the medial or the lateral side of the limb (hemimelic) [20].…”