Foot and Ankle Surgery 17 (2011) 37–43
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Case report
Dysplasia epiphysealis hemimelica: A report of four cases W. Douira-Khomsi MDa,*, H. Louati MDa, Y. Mormech MDa, W. Saied MDb, S. Bouchoucha MDb, M. Smida MDb, M. Ben Ghachem MDb, A. Hammou MDa, I. Bellagha MDa a b
Department of Pediatric Radiology, Children Hospital, Tunis, Tunisia Department of Pediatric Orthopedic Surgery, Children Hospital, Tunis, Tunisia
A R T I C L E I N F O
A B S T R A C T
Article history: Received 28 September 2008 Received in revised form 26 January 2009 Accepted 13 February 2009
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a rare congenital skeletal developmental disorder in childhood. It is characterized by an asymmetric osteocartilaginous overgrowth arising from epiphyses or epiphyseal equivalents. Lesions have hemimelic topography, usually occur in the lower limbs, most commonly in the ankle and the knee and affect either the medial or lateral part of one epiphysis. Objective: The purpose of this study is to describe the imaging features of DEH by reporting four cases. Materials and methods: We present four cases of DEH in one female and three males aged between 7 and 15 years. Lower limb is involved in all cases and patients suffer from pain, limited function and deformity. Radiographs and CT findings were reviewed. All patients were treated by surgical excision. Results: Plain X-ray revealed in all cases an irregular ossification arising from the affected epiphysis. The CT scan revealed an irregular fragmented osteocartilaginous mass involved from the epiphysis, with enlargement of epiphyses and intra-articular extension. Conclusion: The early diagnosis and treatment of DEH is necessary in preventing articular function, CT assists in defining the anatomic relationship between the mass and its parent epiphysis and in evaluating the condition of the articular cartilage and soft tissue. The distinct clinical and radiographic features should enable to differentiate the osteochondroma and the DHE. ß 2009 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.
Keywords: Skeletal Epiphyseal hypertrophy Trevor’s disease Imaging
1. Introduction DEH or Trevor disease is a rare osteocartilaginous dysplasia involving one or multiple epiphyses of long bones in pediatric patients [1–3]. This unusual lesion has rarely been mentioned in the literature. Initially described in 1926 by Mouchet and Belot who called it ‘‘tarsomegaly’’, subsequently in 1950 by Trevor, and later by Fairbank in 1956 who first used the term dysplasia epiphysealis hemimelica (DEH) [2–6]. We report four cases of this dysplasia and we present diagnostic radiographic evidence on both plain film radiographs and CT scans.
swelling had gradually increased in size and was painful after prolonged walking. There is no history of fever, pain, trauma or other joint abnormalities. The length of the second right toe was enlarged. Radiographs of the right foot showed irregular tumour growth around distal epiphyseal center of the second metatarsus (Fig. 1). CT scan performed the same day showed an irregular calcified mass expanding from the medial side of the corresponding epiphyseal center with intra-articular extension (Figs. 2 and 3). A joint effusion and adjacent soft tissues edema were also noted. At operative exploration, a large osteocatilaginous tumour was found and totally removed. Histological examination has confirmed the diagnosis of DHE.
2. Case reports
2.2. Patient 2
2.1. Patient 1
A 15-year-old boy had a pain in the left ankle while walking. There was a history of a minor trauma two years earlier which had not required radiological investigation. On examination the swelling was hard, plantar flexion was limited and ankle movement was restricted at 20 of extension. Radiographs (anterior and lateral projections) showed an irregular enlargement of the talus with osteocartilaginous overgrowth, one arise from the medial side and the second from the anterior side having an intra-articular extension with
An 11-year-old girl presented with a protuberance developed on the anterior aspect of the right foot growing over 6 years. The
* Corresponding author at: Service de Radiologie Pe´diatrique, Hoˆpital d’Enfants de Tunis, Place, Bab Saadoun, 1007, Tunis Jabbari, Tunisie. Tel.: +216 71 57 77 88/98 62 98 51. E-mail address:
[email protected] (W. Douira-Khomsi).
1268-7731/$ – see front matter ß 2009 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.fas.2009.02.003
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W. Douira-Khomsi et al. / Foot and Ankle Surgery 17 (2011) 37–43
Fig. 1. X-ray radiographs of the right foot: (A) anterior, (B) lateral projections showing a fragmented calcification arising from the distal epiphyseal centre of the second metatarsus which is enlarged.
articular surface irregularity (Fig. 4). CT scan showed better the expansion of talus lesions and revealed other irregular calcifications which originated from the medial side of the lower end of the tibia (Fig. 5). A large joint effusion and articular surface irregularity were also noted. The diagnosis of DEH involving two epiphyses was suggested. At operation, large cartilaginous tumours were found and totally removed. The patient had a corrective osteotomy. The histologic diagnosis was an osteochondroma and as it was located in an epiphysis, the diagnosis of DEH was retained. The postoperative course was satisfactory and mobility improved.
2.3. Patient 3 A 13-year-old boy presented to our Childrens’ Hospital with a painless swelling on the lateral aspect of the medial side of his left ankle (Fig. 6). There was no history of trauma, fever or other joint abnormality. Physical examination revealed tenderness on palpation, mild restriction in the range of motion, tissue swelling and mild warmth. Radiographs of the left ankle were performed and showed an irregular exostosis developed from the lateral side of the left talus (Fig. 7). CT scans obtained with soft-tissue and bone windows
Fig. 2. CT scans of the right foot: (A) axial CT image showing irregular ossifications expanding from the medial side of the second metatarsal. (B and C) Coronal reconstructions showed the enlargement of epiphyseal centre with the calcification mass. (D) Sagittal reconstruction.
W. Douira-Khomsi et al. / Foot and Ankle Surgery 17 (2011) 37–43
Fig. 3. Three-dimensional computed tomographic images of the right foot: showing an intra-articular osteochondroma.
demonstrated an expansion bone arising from the antero lateral side of the left talus associated with an irregularity and condensation of the lower end of the tibia (Figs. 8 and 9). A large joint effusion and adjacent soft tissue edema were also noted (Fig. 10). At surgery, the lesion was grayish-bright, of firm consistency and covered with a whitish cartilaginous cap (Fig. 11). Histological examination has confirmed the diagnosis of DEH. 2.4. Patient 4 A 7-year-old boy developed progressive pain and swelling of the left ankle over several 18 months. Physical examination revealed a hard tumour behind the medial malleolus. Plain radiographs and CT scans showed an outgrowth bone arising from the medial side of the talus (Fig. 12). The diagnosis of DEH was suspected. The lesion was totally removed and histopathological examination confirmed the diagnosis. 3. Discussion DEH is a rare disorder belonging to the group of osteochondromatoses [1,2,7,8]. It is characterized by a developmental abnormality of epiphyseal growth affecting one or more epiphyses
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in children. It was mostly described in epiphyses but also occurs in sesamoid bones. Its general reported prevalence is 1 in 1000 000 [1–3]. Etiology of this variant of osteochondroma is still unclear and there is no evidence to suggest hereditary transmission [3–5,7,8]. Some authors believed that the lesion was congenital and was related to an insult during the formation of the limb bud in early foetal life [1,5]. So far only four families with hereditary epiphyseal osteochondromas have been reported in the literature [7]. In our patients, there was no family history. DEH has a predilection for the lower limbs typically involving the distal femur, distal tibia and talus [9,11,12,14]. Upper extremity and axial skeleton involvement are extremely rare [3]. The lesion is characteristically hemimelic (hemi = half, melos = limb), usually involves the medial side of the joint, but lateral involvement has also been described [4,10–12,14]. The hemimelic involvement has been explained by the arrangement of the blood vessels in the epiphysis [4]. Dennis Rwenger et al. and Khaled Backermann et al. reported that the lesion affecting the medial side is twice as common as the lateral side of the joint. Some other authors report entire epiphysis involvement [3,10,14]. DEH is classified into localized, classic, or generalized type [2,3,14]. The localized form affects a single epiphysis. The classic form involves more than one bone in a single limb and represents the most common form of the disease. In the generalized or severe form, the entire lower extremity is affected, from pelvis to foot. Typically, lesions are unilateral and bilateral involvement is extremely rare. Lesions are often discovered during the first decade between the ages of 2 and 8 years affecting males more commonly. The youngest patient ever described was 9-month-old and the oldest 34 years [2–4,8]. Typically, the initial presentation is painless, swelling, deformity, motion limitation or hemihypertrophy [3,4,12,14]. Physical examination shows a limitation of range of joint motion and joint incongruity [3,4]. Radiologic findings are often characteristic [3,4]. Radiographs typically show an irregular mass with focal ossification arising from one side of the affected epiphysis or sesamoid bone. CT scan obtained with soft tissue and bone windows, including 3D reconstruction, is important to show the expansion of the epiphyseal center and helps to define the anatomic relations between the mass and the bone, such as cortical and medullary bone continuity. CT scan can also provide informations about the extent of the lesion. It is usually ordered to plan the surgical treatment [2]. In our patients, the diagnosis of DEH was suggested by radiographs and CT scan was performed, to show the expansion of lesion before surgical treatment, in all cases. MRI imaging may be helpful in differentiating this entity from other para-articular masses with calcifications in infants. The lesion shows characteristic high-signal intensity on T2-weighted images which is similar to cartilage. MRI shows better than CT the extent of the osteochondral overgrowth, providing the status of articular surface and soft tissue changes [3,7,9,13]. Gadolinium contrast materiel may play a role in cases of a complication or a rapidly growing osteochondroma [2,7]. In our patients, MRI were not performed in all cases. Lesions of DEH may be single or multiple, enlarge with skeletal growth, and may be associated with joint deformity. During maturation, the lesion ossifies and becomes confluent with the underlying bone. Premature closure of the physis with resultant deformity and occasional limb discrepancy may also be seen. Articular surface irregularity may lead to early secondary osteoarthritis. There may also be secondary involvement of the metaphysic resulting in undertubulation of bone. The outcome is a rapid degeneration of the involved joints (mainly the ankle more rarely the knee) [3,10].
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Fig. 4. Anterior (A) and lateral (B) radiographs of the ankle showing an enlarged of the distal epiphysis of the tibia and irregular bone opacity in the medial side of the thalus.
At pathological analysis, the lesion appears as a lobulated mass with a cartilaginous cap protruding from an epiphysis. Histologically, tissue consists of normal bone and hyaline cartilage with abundant enchondral ossification. The basic pathological process appears to be an abnormal cartilage proliferation associated with enchondral ossification. Malignant transformation has not been reported in DEH, and surveillance is performed basically to assess the progression of the disease [3,4].
DEH should be differentiated from other osteocartilaginous lesions such as synovial chondromatosis, capsular or para articular chondroma, myositis ossificans, chronic infantile neurologic, tumoral calcinosis, and particularly osteochondroma. The histological differences in combination with the clinical and radiographic features should enable to differentiate these entities [3,4]. Osteochondroma occurs most frequently between 10 and 30 years of age and arises from the metaphysis
Fig. 5. CT-scan images: (A and B) coronal reconstructions, (C and D) axial images: showing a pedonculated ossification arising from the medial side of the talus associated to an irregular enlargement of the epiphysis of the tibia.
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Fig. 6. Photograph of the left ankle showing the swelling of joint.
of long bones, whereas DEH occurs in young children and arises from the epiphyses. Histologically, there are also several significant differences: in the DEH the cartilage cap contains bands of cartilage separating area of cancellous bone; these bands are not present in osteochondroma [11]. Treatment of DEH is not clearly defined and must be specialized for each case encountered. Some authors recommend simple observation for lesions that are not causing pain, deformity or
Fig. 7. Radiograph of the left ankle: anterior projection, showing a bone opacity increasing from the medial side of the talus with an irregular enlargement of the medial side of the epiphysis of the tibia.
Fig. 8. CT-scan images of the left ankle: (A) sagittal and (B) coronal reconstructions, showing an ossification expanding from the anterior and medial side of the talus. A second irregular ossification arises from the medial aspect of the tibia.
Fig. 9. CT-scan: three-dimensional images: showing an osteochondral mass arising from the talus.
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Fig. 10. CT-scan sagittal (A) and axial (B) reconstructions with soft tissue windows: showing a joint effusion and soft tissue edema.
Fig. 11. Intra-operative photographs: (A) demonstrates the large tumour mass and (B) photograph of the excised osteochondral mass.
Fig. 12. X-ray radiographs: (A) anterior, (B) lateral and (C) oblique projections showing a pedonculated bony outgrowth arising from the medial side of the left talus.
motion limitation. Others believe that surgery must be indicated at an early stage before functional disability, to restore the normal growth, prevent the occurrence of the secondary degenerative arthritis and re-establish limited motion of the afflicted joints. The deformity can be treated with excision of the mass and corrective osteotomy. Surgery should be performed if the lesion causes pain or deformity or interferes with the function. Sometimes, the surgery should be repeated once or twice before skeletal maturity when the DEH ceaselessly growth [2–4,8]. The prognosis is generally good with no reports of malignant degeneration.
4. Conclusion DEH is an uncommon benign disease representing an osteochondroma arising from one or more epiphyses in children. Early diagnosis and treatment is necessary in preventing articular function. The distinct clinical and radiographic features should enable to differentiate the osteochondroma and the DHE. Conflict of interest We certify that there is no conflict of interest.
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