14 year old child presented with 6 months history of painless swelling around right ankle.
14 year old child presented with 6 months history of painless swelling around right ankle.
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.
Trevors disease
Based on the provided X-ray images of the right ankle, there is a localized irregular bony overgrowth in the medial aspect of the ankle joint (involving the talus or adjacent tarsal bones). It appears as an exostosis-like lesion, showing a relatively distinct bony protrusion with clear boundaries, with possible calcification visible, and continuity with the adjacent normal bone. Overall, the proliferative site is continuous with the epiphysis (or articular surface), and may show a cartilage cap-like structure.
No clear fracture lines or obvious destructive changes were observed. Soft tissue swelling is relatively mild, presenting as a protruding mass. There is no obvious sign of trabecular disruption.
Considering the patient is a 14-year-old male with a 6-month history of a floating, non-painful ankle mass, and correlating with imaging findings, the following diagnoses should be considered:
Combining the patient’s age, clinical presentation (painless swelling), lesion location (unilateral epiphyseal overgrowth in the joint), and imaging features (continuous with the articular surface, cartilage cap-like changes), the most fitting diagnosis is Trevor disease (Dysplasia Epiphysealis Hemimelica). For further confirmation, an MRI could be considered to precisely visualize the cartilage cap and delineation from normal epiphysis, or a biopsy could be performed if necessary to exclude other uncommon lesions.
For Trevor disease, the treatment focuses on correcting or reducing functional impairment caused by abnormal epiphyseal growth, alleviating pain, and preventing secondary joint damage. Specific considerations include:
Following treatment or during conservative management, appropriate rehabilitation exercises help maintain joint mobility, muscle strength, and function. Adhering to the FITT-VP principle:
During rehabilitation, closely observe joint response. Suspend activities and seek advice from an orthopedic specialist or rehabilitation therapist if significant pain, discomfort, or local swelling occurs.
This report is based solely on the available clinical and imaging data, serving as a reference for analysis. It cannot replace in-person consultations or professional medical advice. If any doubts arise or symptoms worsen, please seek prompt evaluation and treatment from a qualified hospital.
Trevors disease