Trevors disease

Clinical Cases 02.03.2007
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Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 14 years, male
Authors: Tripathi S, Vasireddy N, Ganeshan D, Gupta S, AW Yeang H.
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AI Report

Clinical History

14 year old child presented with 6 months history of painless swelling around right ankle.

Imaging Findings

14 year old child presented with 6 months history of painless swelling around right ankle.

Discussion

Trevor’s disease also called as Dysplasia epiphysealis hemimelica (DEH) is a rare congenital benign bone developmental disorder affecting the epiphyses in young children and is characterised by asymmetrical limb deformity due to localised overgrowth of cartilage. Male-to-female ratio is 3: 1 with incidence of 1 case per million population. No race predilection is known it has uncertain aetiology and is not genetically transmitted. The natural history of DEH is a continuous increase in size of the lesion until skeletal maturity and if is not treated can cause pain and degenerative osteoarthritis. This condition most commonly affects lower extremities around the knee, talus, and talonavicular and first cuneiform joints. Most patients present with painless swelling or a mass on one side of the joint, limitation of motion, and occasionally, recurrent locking of the joint. Macroscopically, the bone enlargement appears similar to an exostosis and microscopically the lesion has a well-defined cartilage cap over projecting bone that is contiguous with the underlying normal bone and is indistinguishable from that of an osteochondroma. Plain radiography reveals early focal calcification at the affected site with later appearance of irregular bony enlargement, which becomes fused to the affected epiphysis. Computerized tomography scanning assists in defining the anatomic relationship. MRI depicts the unossified cartilaginous mass in greater detail, as well as the status of the articular cartilage, and helps to differentiate the abnormal epiphyseal growth from the main epiphysis. Arthrography assists in delineating the joint space deformity and the extent of cartilaginous mass, but it is an invasive diagnostic tool. Medical treatment is supportive joint care and short-term splinting, but most cases require surgical correction if the lesion is causing deformity, pain, or interference with function. Differential diagnoses include chondroblastoma, osteochondroma, and enchondroma.

Differential Diagnosis List

Trevors disease

Final Diagnosis

Trevors disease

Liscense

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