Trevor's disease (dysplasia epiphysealis hemimelica)

59-year-old woman with painful and swollen right wrist on the extensor side. No history of trauma, infection or tumor. The other joints are free of symptoms.

Examination findings

A firm, non-displaceable mass on the dorsal side of the carpal region. End-stage extension restricted, incomplete closure of the fist. All laboratory values within their normal ranges.

Radiological findings

X-ray shows multiple ossicles on the dorsal aspect of the carpal region; on CT, some of these are fused with the carpal bones. In addition, cystic inclusions with marginal sclerosis are seen in the carpals and in the ulnar head.

Contrast-enhanced MRI shows cartilaginous tissue originating from the carpals and surrounding the ossifications. The signal intensity of the extraosseous tumor portion is identical to that of the cystic, intraosseous inclusions.

This finding is indicative of hemimelic epiphyseal dysplasia (Trevor-Fairbank disease). The finding was confirmed by pathohistology, and no surgical removal was made.

Background

Trevor's disease is a very rare skeletal dysplasia with localized proliferation of osteochondral tissue.
It becomes symptomatic in childhood and adolescence. It originates from one or more epiphyses. Accessory bone tissue and cap-like covering cartilage tissue are connected to the epiphyses of neighboring bones.

Approximately 300 cases of Trevor disease have been described in the literature. Unilateral manifestation in one half of the body is characteristic – thus the term “hemimelic”. Dysplasia of the ankle or talus and the knee joint is most common. There are three different degrees of severity: localized, extensive and generalized. Presentations of Trevor's disease in the hand have only been described in 10 patients, with one report coming from our working group (Gölles et al., Eur J Radiol 2011;77:245).

Learning points

The combination of osseous and chondral accessoria and cystic, rim-sclerosed inclusions in the neighboring bone should raise suspicion of osteochondral proliferative tissue. Cartilage tissue can be detected on MRI based on the high signal in T2*-weighted gradient echo sequences and on peripheral contrast enhancement.