Trevor disease, also known as hemimelic epiphyseal dysplasia, is a rare skeletal disorder in which abnormal proliferation of epiphyseal cartilage occurs, most commonly in the ankle or the knee. A slow-growing mass that is usually painless is the principal complaint. The diagnosis is made through imaging studies and biopsy.
Trevor disease is more commonly known as hemimelic epiphyseal dysplasia (HED) and is characterized by unilateral asymmetric overgrowth of the epiphyseal cartilage . Although the lesion is benign and does not have the potential for malignant transformation, signs and symptoms can be quite debilitating, especially if recognition is delayed for a significant period of time. The diagnosis is most frequently made during the first and second decade of life, with a marked predisposition toward male gender   . A slow-growing painless mass, most commonly located in the medial aspects of the ankle (approx 50% of all cases) or the knee, is the typical feature of trevor disease  . Distal or proximal tibia, fibula, distal femur, talus, navicular, cuneiform, cuboid, and calcaneus are other reported sites  . Profound reduction in mobility and functional impairment is noted, and symptoms such as swelling and wasting may accompany the lesion . In severe cases, the mass can become painful, leading to marked stiffness of the joint and anisomelia . However, three clinical forms have been recognized: Involvement of only one epiphysis (localized form), more than one epiphysis in the same extremity (classic form that is observed in the majority of cases); and generalized, in which the entire limb is affected by abnormal epiphyseal growth  .
Entire Body System
Biedert R (1991) Anterior ankle pain in sports medicine, etiology and indications for arthroscopy. Arch Orthop Trauma Surg 110:293–297 PubMed CrossRef Google Scholar 2. Bullough PG (2010) Orthopaedic pathology. In: Vosburgh A (ed) 5th edn. [doi.org]
An 11-year-old boy presented with a 2-year history of left ankle pain and abnormal gait, worsened with sports activities such as football and wrestling. [healio.com]
On examination, there was an irregular bony swelling 15 cm by 10 cm by 10 cm on the antero medial aspect of right distal femur and proximal tibia. It was associated with a 1.5 cm shortening of each of the right femur and right tibia. [ijpoonline.com]
The characteristic hemimelic pathological growth pattern results clinically in painless, bony swelling, deformities, exostoses, limb-length discrepancies, progressive stiffness and articular incongruency [ 1, 2, 3, 4, 5, 6, 7, 10, 15 ]. [em-consulte.com]
Left Shoulder Pain
The authors report the case of a 15-year-old boy who presented with left shoulder pain and paresthesia of the left hand. Imaging studies revealed an osseous lesion compressing the C-8 nerve root. [ncbi.nlm.nih.gov]
Advanced Bone Age
Advanced bone age is usually encountered in the affected extremity. [ncbi.nlm.nih.gov]
stiffness Stiff joint Stiff joints [ more ] 0001387 Osteoarthritis Degenerative joint disease 0002758 Pes planus Flat feet Flat foot [ more ] 0001763 Tarsal synostosis Fused ankle bones 0008368 30%-79% of people have these symptoms Genu valgum Knock [rarediseases.info.nih.gov]
Trevor disease is rarely encountered in clinical practice and its diagnosis may be difficult to obtain without a thorough workup. Patient history is important for determining the course of symptoms and their onset, whereas physical examination can note joint-related complaints and rule out other more common causes, such as trauma. Imaging studies, however, are the gold standard, and plain radiography of the affected joint or bone is a useful first-line method. In the initial stages of the disease, an irregular lesion arising from the epiphysis is observed with signs of calcification . Over time, complete ossification and fusion with the underlying bone occurs, in which case distinction from other similar bone lesions (osteosarcoma, osteochondroma, and other tumors) may be difficult  . For this reason, more advanced techniques, such as computed tomography (CT) or magnetic resonance imaging (MRI) can be employed, in order to obtain a better view of the lesion   . Biopsy and subsequent histopathological examination, frequently performed after surgical excision of the lesion, is considered to be the definite diagnostic measure that confirms trevor disease, although the numerous cartilaginous foci of endochondral ossification, which are typically detected on microscopy, are strikingly similar to osteochondroma .
- Baumfeld D, Pires R, Macedo B, et al. Trevor Disease (Hemimelic Epiphyseal Displasia): 12-year Follow-up Case Report and Literature Review. Ann Med Health Sci Res. 2014;4(1):S9-S13.
- Arealis G, Nikolaou VS, Lacon A, Ashwood N, Hayward K, Karagkevrekis C. Trevor’s Disease: A Literature Review regarding Classification, Treatment, and Prognosis apropos of a Case. Case Rep Orthop. 2014;2014:940360.
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