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|Year : 2014 | Volume
| Issue : 1 | Page : 77-80
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee
J Zhu1, H Cheng2, C Yang1, Q Zhu1
1 Institute of Orthopaedic Surgery, Xijing Hospital, The Fourth Military Medical University, Xi'an, China
2 Department of Pathology, Xijing Hospital, The Fourth Military Medical University, Xi'an, China
|Date of Submission||19-Aug-2013|
|Date of Decision||18-Sep-2013|
|Date of Acceptance||17-Jan-2014|
|Date of Web Publication||14-Mar-2014|
Institute of Orthopaedic Surgery, Xijing Hospital, The Fourth Military Medical University, Xi'an
Source of Support: None, Conflict of Interest: None
A rare case of dysplasia epiphysealis hemimelica in the left knee which caused valgus deformity and dysfunction of the limb is presented in this article. Subtotal excision of the lesion, distal femoral medial wedge osteotomy, and reconstruction of the medial collateral ligament were performed for treatment. Cannulated screws and plaster casts were used to stabilize the ligament and distal femur. Two years after removal and reconstruction, the knee was symptom free. The left knee laxity was restored and the mechanical axis of the distal femur was realigned.
Keywords: Bone, dysplasia epiphysealis hemimelica, osteotomy, Trevor′s disease
|How to cite this article:|
Zhu J, Cheng H, Yang C, Zhu Q. Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. J Postgrad Med 2014;60:77-80
| :: Introduction|| |
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease or Fairbank's disease, is a rare developmental disorder characterized by benign osteocartilaginous overgrowth of unknown etiology involving single or multiple epiphyses. Usually, DEH is unilateral and localized. In most cases, the distal femoral and tibial epiphysis are affected and most commonly, the talus. ,, The ratio between males and females is about 3:1. It mostly presents itself in children and young adults.  A previously untreated case of DEH involving a huge lesion of femoral epiphysis is described here, which caused valgus deformity of the knee, subtotal excision of the femoral condyle, and varus osteotomy realignment of the mechanical axis of the distal femur.
| :: Case Report|| |
A 22-year-old male presented for evaluation of left knee swelling, limping and pain increased while walking of 3 month duration. The patient stated that he had a "bump" in the medial side of his left knee since he was about 10-years old, but there had been no pain or any restriction of range of motion. He did not seek any advice from orthopedic specialists or receive any kind of medical treatment for it. As time went by, the "bump" grew gradually from the size of an egg to the size of a fist. He did not recall any specific traumatic event or infection. He complained of decreased range of motion of the left knee which gradually worsened, and added that running or increased exercise made the knee more uncomfortable.
Physical exam of the patient revealed a mild limp, 30 degrees of valgus deformity, and lateral displacement of the patella. A single firm mass was palpable inferior to the femoral condyle with no tenderness. Range of motion decreased in extension and flexion on the symptomatic knee compared to the asymptomatic knee. Extension could only approach 0 degrees on the symptomatic side and up to -5 degrees on the asymptomatic side. Flexion could only approach 90 degrees on the symptomatic side and up to 135 degrees on the asymptomatic side.
A standard anteroposterior radiograph of the left knee revealed a large bony lesion arising from the femoral epiphysis extending to the medial posterior aspect of the medial condyle. Severe osteoarthritic changes of the medial compartment were found, and the mass consisted of cancellous bone with small areas of radiolucency. Three-dimension volume-rendered images were obtained with a multidetector helical CT scan. The profile of the femoral condyle was totally abnormal. A large mineralized mass with rough surface was attached to the medial condyle and protruded into the inferior and posterior aspect of the left knee. The medial condyle and the mass were not ossified uniformly. A loose body presented in the popliteal fossa. The mass extended to the bearing surface of the joint [Figure 1].
|Figure 1: Preoperative radiographs (a) Standard anteroposterior radiograph. (b) Three-dimension reconstruction images. (c) Coronal scan image: Joint body can be seen on the top of the lesion. (d) Horizontal plane: The lump locates in the medial posterior side of medial condyle|
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Surgery was performed through a medial incision. After exposure of the femoral condyle, the medial joint capsule appeared to be bulging with a firm intraarticular mass. When the capsule was opened, an intraarticular mass with a chondral surface was found connected to the medial condyle with no significant border and mild erosion of the medial tibial plateau surface was detected. The lesion participated in composition of the joint surface of the medial condyle of the femur. The loose body in the popliteal fossa was removed first. Then the mass was excised and the medial condyle of the left knee was sculptured to its natural shape. The osteotomy was carried out in the medial side only, proximal to the adductor tubercle to correct the valgus deformity, and a 22.5° medially based wedge of bone was then removed based on preoperative measurement. After this wedge osteotomy, the distal femoral condyles were parallel to the tibial plateau, and the normal alignment of the lower limb was restored [Figure 2]. After the distal femoral medial wedge osteotomy, two cannulated screws were applied to insure internal fixation and the medial collateral ligament was tightened and sutured with the medial capsule. One cannulated screw was used to fix the attachment of the medial collateral ligament to the femur. Histologic examination revealed cancellous bone capped with hyaline cartilage with evidence of endochondral bone formation at the interface, suggesting DEH [Figure 3].
|Figure 3: Intraoperative images and pathologic sections (a) Medial condyle of the left knee: the lump consists of joint surface and has no clear border from normal bone. (b) Distal femoral varus osteotomy fixed by two cannulated screws. (c) Pathologic section (HE, ×100): Outer layer (upper right), fibrous membrane; middle layer, hyaline cartilage; inner layer, cluster of cartilage lacuna and chondrocyte. (d)Pathologic section (HE, ×100): Middle layer (left), hyaline cartilage; inner layer (right), perichondral bone|
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The leg was immobilized with a plaster cast from ankle to mid-thigh in 5 degrees of knee flexion. Partial weight-bearing exercises were encouraged after 6 weeks, and full weight-bearing was achieved at the end of the third month postoperatively. Two years after removal and reconstruction, the knee was symptom free. The left knee laxity was restored to normal and the mechanical axis of the distal femur was realigned. Flexion approached 120 degrees [Figure 4] and no signs of recurrence were evident on radiographs [Figure 5].
|Figure 4: Preoperative and postoperative appearance Preoperative appearance: (a) Swelling and valgus of the left knee; (b) Flexion only can approach to 90 degrees. Two years follow-up: (c) Flexion can approach to 120 degrees; (d) Mechanical axis of the distal femur realigned|
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| :: Discussion|| |
DEH is an extremely rare disease which is characterized by benign osteocartilaginous overgrowth. The reported incidence was about one in a million.  Imaging plays a major role in the diagnosis and differential diagnosis of DEH. Typically, the lesion occurs in an epiphysis of a lower limb or talus, but it also can occur in an upper limb. The radiographic features include asymmetrical overgrowth on one side of an epiphysis with irregular or premature calcifications.
Symptoms may vary. In most cases, patients complain of a large, firm mass deforming a portion of the bone involved with or without pain or restriction of motion.  Our patient presented with swelling over the left knee, a valgus deformity of the knee, and a fist-sized mass in the medial side of the distal femur. Limping, pain increased while walking, and the restriction of motion were due to osteoarthritis which the mass caused by producing friction between the joint surfaces. These considerations, together with the medical history and diagnostic imaging, lead to the final diagnosis of DEH.
Osteochondroma is the primary consideration in the differential diagnosis. Osteochondroma occurs most frequently between the ages of 10 and 30 and arises from the metaphyses of long bones growing away from the joint. It rarely causes joint deformity or changes in the contour of the articular surfaces of the adjacent joint, whereas DEH occurs in younger children in most circumstances and arises from the epiphyses.  There also are other diseases needing to be identified from DEH like synovial chondromatosis and chondrosarcoma. Synovial chondromatosis presents in adults aged 30 to 50 twice as often in men than women and does not occur in children, and the radiologic appearance is radiopaque round or oval loose bodies within the joint, which are different from DEH. As for chondrosarcoma, it most commonly occurs in adults aged 30 to 70 years, with the peak age of incidents being sometime around 40 to 60, and has a male to female ratio of 3 to 2. On plain radiographs, chondrosarcoma is a fusiform, lucent defect with scalloping of the inner cortex and periosteal reaction. Extension into the soft tissue may be present as well as punctate or stippled calcification of the cartilage matrix. These are all different from DEH. Histopathologically, it is not possible to distinguish DEH from osteochondroma. Gene expressions of EXT1 and EXT2 are in normal ranges in DEH, whereas they are lower in osteochondroma. ,,
Normally, this kind of case is best treated at an early age before progressive deformity and intraarticular chondromalacia changes become irreversible, leading to eventual total joint replacement at a later age. Considering that the patient was too young to treat with a uni-knee or total knee replacement, and osteotomy treatment had appropriately realigned the knee with good radiologic results 2 years later [Figure 5].
Correctional osteotomies play a very important role in preventing DEH patients from acquiring future deformities. , Unloading osteotomy is a successful treatment method in unicompartmental knee osteoarthritis with associated valgus or varus malalignment. Distal femoral varus osteotomy is a procedure that is performed for the treatment of lateral compartment osteoarthritis of the knee as well as for correction of the associated valgus deformity, which this patient manifests significantly. We chose medial wedge osteotomy not only because of the location of the mass but also in an attempt to avoid nonunion, which is the primary complication following distal femoral osteotomy.  At 2 years follow-up, the patient regained his gait, range of motion of the knee, and normal appearance of the limb. The radiograph shows good union of the osteotomy.
We described a DEH case in which the lesion partially involved the joint surface and had no clear boundary from the distal femur, with early stage osteoarthritis, in a male adult. Subtotal excision and varus osteotomy were performed and a good outcome was obtained at 2 year follow-up. DEH is an uncommon benign disease which should be kept in mind for these types of bony lesions around the knee. Although the prognosis is generally good with no reports of malignant degeneration, early diagnosis and treatment are necessary in retaining articular function.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
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