An 8-year-old male patient presented with left ankle pain and limited motion slowly progressed within the last two years. No history of trauma, infection, malignancy, or operation.
Dedicated computed tomography (CT) of the left ankle joint revealed irregular boney outgrowth is seen originating by a small pedicle from the postero-lateral surface of the distal tibial epiphysis. It shows cortex and medullary continuity with the tibial epiphysis.
Lateral bowing and deformity of the distal fibula are noted as compensatory to the tibial boney outgrowth.
Another similar epiphyseal boney outgrowth is seen originating from the talar dome, it also shows continuity with the talar bone. It is associated with the subsequent widening of the tibiotalar joint.
Multiple ossified intraarticular loose bodies are noted secondary to fragmentation of the previously described boney outgrowth.
Magnetic resonance imaging (MRI) of the left ankle joint confirmed the cortical and medullary continuity of both the tibial and talar boney outgrowth.
The CT and MRI appearance of the lesions as well as the patient’s age were typical for the classic form of dysplasia epiphysealis hemimelica (DEH) (Trevor’s disease) involving the distal tibial epiphysis and the talar dome.
Dysplasia epiphysealis hemimelica (DEH) is a rare non-hereditary disorder affecting the epiphysis at one side. The clinical features of the disease are not specific and it may overlap with traumatic injuries, infections, or other tumors. The lesions show no malignant potentials nor hereditary transmission [1].
Early reports suggested that the condition affects the lower limbs only. However, later on, many reports indicated upper limb involvement as well as more generalized distribution [2].
The most commonly affected lower limb joint is the ankle, followed by the knee and the hip. However, in the upper limb the most commonly affected joint is the wrist, followed by the elbow and the shoulder. Azouz et al. have classified lesions into:
The diagnosis is usually made by the characteristic radiographic appearance. The typical involvement is characterized by epiphyseal cartilaginous overgrowth, that occurs asymmetrically and contains multiple ossific centers. There are different patterns of epiphyseal chondral ossification that can be stippled, irregular, or dense. The involved epiphysis is usually larger than normal and there is associated metaphyseal widening and remodelling [5].
When DEH is totally ossified, its histological appearance is indistinguishable from osteochondroma. So, the key to differential diagnosis is the lesion location and age of presentation. Osteochondroma mostly affects the metaphyseal region of the long bones, while DEH arises from epiphysis. Most patients are younger than 30 years at the time of diagnosis [4].
The treatment should be individualized according to the patient’s condition. Asymptomatic lesions should receive palliative treatment. However, if the lesions cause pain and deformity surgical treatment is recommended. It is of note that there can be recurrence after surgery if surgery is performed before the closure of the physis [4].
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Dysplasia epiphysealis hemimelica (Trevor’s disease)
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Based on the CT and MRI images, the bony structures near the distal tibia and talus of the child’s left ankle show the following characteristics:
Overall, these findings indicate unilateral epiphyseal proliferation consistent with the imaging features of “Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease.”
Combining the imaging findings with the child’s clinical history (8-year-old, chronic ankle pain gradually worsening, no history of trauma, infection, tumor, or surgery), the following potential diagnoses are considered:
Given the child’s age, location of the lesion, and the typical “excessive epiphyseal cartilage proliferation,” “Dysplasia epiphysealis hemimelica” is the primary consideration.
Based on the child’s medical history, imaging characteristics, and the typical unilateral overgrowth changes of the ankle epiphysis, the most likely diagnosis is:
Dysplasia epiphysealis hemimelica (Trevor disease).
If uncertainty remains, further confirmation can be sought through pathological examination and follow-up imaging to rule out rare chondroid tumors or other skeletal developmental abnormalities.
Disclaimer: This report is based on the currently provided medical records and imaging data for reference analysis only and should not substitute for an in-person consultation or professional medical advice. If you have any concerns or if the condition changes, please seek timely medical attention or consult orthopedic and radiology specialists.
Dysplasia epiphysealis hemimelica (Trevor’s disease)