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Dysplasia epiphysealis hemimelica or Trevor's disease of proximal tibia mimicking loose body
Dysplasia epiphysealis hemimelica or Trevor’s disease of proximal tibia mimicking loose body
other swelling. Plain X-rays of the left knee revealed opacity around medial aspect of knee joint. Computed tomography scan revealed curvilinear, interrupted and sclerotic protuberance arising from the medial surface of proximal tibial epiphysis with rounded bulge of lucent cartilaginous tissue around it and multiple ossification centers (Figures 2 and 3). According to clinical examinations and imaging, a preliminary diagnosis of DEH disease was made and excision biopsy was performed to confirm the diagnosis. Under general anesthesia, the swelling was approached through medial incision. Intra-operative findings revealed mass with smooth glistening surface. The mass was excised and wound was stitched. Postoperative period was uneventful and patient was discharged in stable condition. On histopathological examination, lesion consisting of chondrocytes with multiple pieces of bony tissues was seen (Figure 4). This finding was consistent with DEH.
Pankaj Bansal, MS (Ortho)* Rahul Khare, MS (Ortho)** Hitesh Lal, MS (Ortho)** Deepak Mittal, MS (Ortho)***
INTRODUCTION
DISCUSSION
Dysplasia epiphysealis hemimelica (DEH) is an uncommon osteocartilaginous overgrowth of unknown etiology involving one or more epiphysis and is localized to one side of the body. It was first reported by Mouchet and Belot, and was named as tarsomegalie.1 Trevor (1950) reported 8 cases of the disease and named them as tarso-epiphyseal aclasia.2 Fairbank (1956) reported 14 cases and renamed the condition as DEH.3 We report a rare case of 12-year-old male child suffering from DEH involving proximal tibial epiphysis. Dysplasia epiphysealis hemimelica usually causes diagnostic dilemma.
Dysplasia epiphysealis hemimelica is a rare disease. The reported incidence is 1 in 1 million.4 This disease is also commonly
CASE REPORT A 12-year-old male child was referred to us with complaints of swelling over medial aspect of left knee joint (Figure 1). The swelling was present from last 4 years. Patient had history of trivial trauma 4 years back. Patient was initially treated by local practitioners and was diagnosed as post-traumatic bone fragments. Doctors told him that no specific treatment was required and advised him close monitoring. Swelling increased with time and patient presented to us for further management. On clinical examination, 2 × 2 cm mass was present over medial aspect of left knee joint. The mass was non-tender, hard and firmly attached to the underlying bone. No signs of infection were present over the swelling. The movements of the knee joint were normal. There was no distal neurovascular deficit. On further examination, there were no enlarged lymph nodes at the left leg or groin. Examination of whole body did not reveal any
Figure 1 Clinical presentation of the case before surgery—swelling over medial aspect of left knee joint.
*Senior Resident, **Specialist, ***Professor, Department of Orthopaedics, Dr. Ram Manohar Lohia Hospital, New Delhi, India. Correspondence: Dr. Pankaj Bansal, Senior Resident, Orthopaedics, Room No. 102, Doctors’ Hostel, Ram Manohar Lohia Hospital, New Delhi – 110001, India. E-mail: [email protected]
JCOT Vol 1 No 2
Figure 2 CT scan image (transverse section) showing multiple ossification centers. 105
Bansal, et al
usually affects children and young adults. Dysplasia epiphysealis hemimelica is more common in men than women in a ratio of approximately 3:1.4 In 60–70% of cases multiple bones are affected. The most common site of involvement is talus, distal femur and distal tibia epiphysis but DEH can affect radius, carpal bones, hip, spine and metatarsals.5–8 Dysplasia epiphysealis hemimelica usually affects one side of the body, with medial side involved more frequently. According to Trevor, arrangement of blood vessels in the epiphysis is responsible for this confinement. Recent studies documented bilateral DEH.9 In literature only few cases of solitary DEH have been reported. Histologically DEH resembles osteochondroma. The difference between these two entities is that DEH arises from epiphysis while osteochondroma arises from metaphysis. Malignant transformation of DEH has not been reported yet. In conclusion, possibility of DEH should be kept in the mind for these type of bony lesions in young children around joints specially ankle and knee joints. Although the prognosis of the disease is good but excision prevents the deformity formation and also confirms the diagnosis.
Figure 3 CT scan image (coronal section) showing curvilinear, interrupted and sclerotic protuberance from the medial surface of proximal tibial epiphysis with rounded bulge of lucent cartilaginous tissue around it.
We affirm that we have no financial affiliation (including research funding) or involvement with any commercial organization that has a direct financial interest in any matter included in this manuscript. There is no conflict of interest. ♦
REFERENCES 1.
Mouchet A, Belot J. La tarsomegalie. J Radiol Elecctrol 1926;10:289–93.
2.
Trevor D. Tarso-epiphyseal aclasia, a congenital error of epiphysial development. J Bone Joint Surg Br 1950;32:204–13.
3.
Fairbank TJ. Dysplasia epiphysealis hemimelica (tarso-epiphyseal aclasia). J Bone Joint Surg Br 1956;32:237–57.
4.
Figure 4 Photomicrograph showing chondrocytes with multiple pieces of bony tissues shown by black arrows (H and E, ×100).
In: Wynne-Davis R, Hall CM, Apley AG, eds. Atlas of Skeletal Dysplasia New York: Churchill Livingstone, 1985:539–43. 5.
known as Trevor’s disease. The etiology of DEH is still not clear. According to Trevor report, the lesion was due to an insult during the formation of limb bud.1 According to Fairbank, the lesion was a true dysplasia or a faulty growth of the epiphysis.3 In DEH initially multiple ossification centers appear outside the boundary of epiphysis. With growth, these ossification centers fuse together and later on also fuse to the epiphysis. Because of multiple ossification centers, this condition is usually diagnosed as post-traumatic bone fragments by local practitioners. In the initial stage, DEH can be confused with synovial osteochondromatosis but synovial osteochondromatosis mainly occurs in the late adulthood. Dysplasia epiphysealis hemimelica
JCOT Vol 1 No 2
Wynne-Davis R, Hall CM, Apley AG. Dysplasia epiphysealis hemimelica.
Levi N, Ostgaard SE, Lund B. Dysplasia epiphysealis hemimelica (Trevor’s disease) of the distal radius. Acta Orthopaedica Belgica 1998;64:104–6.
6.
Taniguchi Y, Tamaki T. Dysplasia epiphysealis hemimelica with carpal instability. J Hand Surg (Br) 1998;23B:3:425–7.
7.
Haddad F, Chemali R, Maalouf G. Dysplasia epiphysealis hemimelica with involvement of hip and spine in a young girl. J Bone Joint Surg Br 2008;90:952–6.
8.
Currie J, Beall DP, Lv JQ. Trevor’s disease involving the fifth metatarsal
9.
Carlson DH, Wilkinson RH. Variability of unilateral epiphyseal dysplasia
of the left foot: a case report. Foot Ankle Int 2003;24:650–2. (dysplasia epiphysealis hemimelica). Pediatric Radiol 1979;133: 369–73.
106
other swelling. Plain X-rays of the left knee revealed opacity around medial aspect of knee joint. Computed tomography scan revealed curvilinear, interrupted and sclerotic protuberance arising from the medial surface of proximal tibial epiphysis with rounded bulge of lucent cartilaginous tissue around it and multiple ossification centers (Figures 2 and 3). According to clinical examinations and imaging, a preliminary diagnosis of DEH disease was made and excision biopsy was performed to confirm the diagnosis. Under general anesthesia, the swelling was approached through medial incision. Intra-operative findings revealed mass with smooth glistening surface. The mass was excised and wound was stitched. Postoperative period was uneventful and patient was discharged in stable condition. On histopathological examination, lesion consisting of chondrocytes with multiple pieces of bony tissues was seen (Figure 4). This finding was consistent with DEH.
Pankaj Bansal, MS (Ortho)* Rahul Khare, MS (Ortho)** Hitesh Lal, MS (Ortho)** Deepak Mittal, MS (Ortho)***
INTRODUCTION
DISCUSSION
Dysplasia epiphysealis hemimelica (DEH) is an uncommon osteocartilaginous overgrowth of unknown etiology involving one or more epiphysis and is localized to one side of the body. It was first reported by Mouchet and Belot, and was named as tarsomegalie.1 Trevor (1950) reported 8 cases of the disease and named them as tarso-epiphyseal aclasia.2 Fairbank (1956) reported 14 cases and renamed the condition as DEH.3 We report a rare case of 12-year-old male child suffering from DEH involving proximal tibial epiphysis. Dysplasia epiphysealis hemimelica usually causes diagnostic dilemma.
Dysplasia epiphysealis hemimelica is a rare disease. The reported incidence is 1 in 1 million.4 This disease is also commonly
CASE REPORT A 12-year-old male child was referred to us with complaints of swelling over medial aspect of left knee joint (Figure 1). The swelling was present from last 4 years. Patient had history of trivial trauma 4 years back. Patient was initially treated by local practitioners and was diagnosed as post-traumatic bone fragments. Doctors told him that no specific treatment was required and advised him close monitoring. Swelling increased with time and patient presented to us for further management. On clinical examination, 2 × 2 cm mass was present over medial aspect of left knee joint. The mass was non-tender, hard and firmly attached to the underlying bone. No signs of infection were present over the swelling. The movements of the knee joint were normal. There was no distal neurovascular deficit. On further examination, there were no enlarged lymph nodes at the left leg or groin. Examination of whole body did not reveal any
Figure 1 Clinical presentation of the case before surgery—swelling over medial aspect of left knee joint.
*Senior Resident, **Specialist, ***Professor, Department of Orthopaedics, Dr. Ram Manohar Lohia Hospital, New Delhi, India. Correspondence: Dr. Pankaj Bansal, Senior Resident, Orthopaedics, Room No. 102, Doctors’ Hostel, Ram Manohar Lohia Hospital, New Delhi – 110001, India. E-mail: [email protected]
JCOT Vol 1 No 2
Figure 2 CT scan image (transverse section) showing multiple ossification centers. 105
Bansal, et al
usually affects children and young adults. Dysplasia epiphysealis hemimelica is more common in men than women in a ratio of approximately 3:1.4 In 60–70% of cases multiple bones are affected. The most common site of involvement is talus, distal femur and distal tibia epiphysis but DEH can affect radius, carpal bones, hip, spine and metatarsals.5–8 Dysplasia epiphysealis hemimelica usually affects one side of the body, with medial side involved more frequently. According to Trevor, arrangement of blood vessels in the epiphysis is responsible for this confinement. Recent studies documented bilateral DEH.9 In literature only few cases of solitary DEH have been reported. Histologically DEH resembles osteochondroma. The difference between these two entities is that DEH arises from epiphysis while osteochondroma arises from metaphysis. Malignant transformation of DEH has not been reported yet. In conclusion, possibility of DEH should be kept in the mind for these type of bony lesions in young children around joints specially ankle and knee joints. Although the prognosis of the disease is good but excision prevents the deformity formation and also confirms the diagnosis.
Figure 3 CT scan image (coronal section) showing curvilinear, interrupted and sclerotic protuberance from the medial surface of proximal tibial epiphysis with rounded bulge of lucent cartilaginous tissue around it.
We affirm that we have no financial affiliation (including research funding) or involvement with any commercial organization that has a direct financial interest in any matter included in this manuscript. There is no conflict of interest. ♦
REFERENCES 1.
Mouchet A, Belot J. La tarsomegalie. J Radiol Elecctrol 1926;10:289–93.
2.
Trevor D. Tarso-epiphyseal aclasia, a congenital error of epiphysial development. J Bone Joint Surg Br 1950;32:204–13.
3.
Fairbank TJ. Dysplasia epiphysealis hemimelica (tarso-epiphyseal aclasia). J Bone Joint Surg Br 1956;32:237–57.
4.
Figure 4 Photomicrograph showing chondrocytes with multiple pieces of bony tissues shown by black arrows (H and E, ×100).
In: Wynne-Davis R, Hall CM, Apley AG, eds. Atlas of Skeletal Dysplasia New York: Churchill Livingstone, 1985:539–43. 5.
known as Trevor’s disease. The etiology of DEH is still not clear. According to Trevor report, the lesion was due to an insult during the formation of limb bud.1 According to Fairbank, the lesion was a true dysplasia or a faulty growth of the epiphysis.3 In DEH initially multiple ossification centers appear outside the boundary of epiphysis. With growth, these ossification centers fuse together and later on also fuse to the epiphysis. Because of multiple ossification centers, this condition is usually diagnosed as post-traumatic bone fragments by local practitioners. In the initial stage, DEH can be confused with synovial osteochondromatosis but synovial osteochondromatosis mainly occurs in the late adulthood. Dysplasia epiphysealis hemimelica
JCOT Vol 1 No 2
Wynne-Davis R, Hall CM, Apley AG. Dysplasia epiphysealis hemimelica.
Levi N, Ostgaard SE, Lund B. Dysplasia epiphysealis hemimelica (Trevor’s disease) of the distal radius. Acta Orthopaedica Belgica 1998;64:104–6.
6.
Taniguchi Y, Tamaki T. Dysplasia epiphysealis hemimelica with carpal instability. J Hand Surg (Br) 1998;23B:3:425–7.
7.
Haddad F, Chemali R, Maalouf G. Dysplasia epiphysealis hemimelica with involvement of hip and spine in a young girl. J Bone Joint Surg Br 2008;90:952–6.
8.
Currie J, Beall DP, Lv JQ. Trevor’s disease involving the fifth metatarsal
9.
Carlson DH, Wilkinson RH. Variability of unilateral epiphyseal dysplasia
of the left foot: a case report. Foot Ankle Int 2003;24:650–2. (dysplasia epiphysealis hemimelica). Pediatric Radiol 1979;133: 369–73.
106