Dysplasia Epiphysealis Hemimelica Research Articles

Arthroscopic Management of Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Ankle

Dysplasia epiphysealis hemimelica (Trevor disease) is a rare skeletal development disorder of childhood, characterized by irregular ossification centers, which may develop together or individually, leading to asymmetric epiphyseal cartilage overgrowth, affecting 1 side of the epiphyses or the epiphyses equivalents (the medial side being affected twice as often as the lateral), until skeletal maturity is reached. Trevor disease around the ankle is locally aggressive with a poor outcome, especially in tumors involving the articular surface. The purpose of this Technical Note is to describe the details of arthroscopic management of dysplasia epiphysealis hemimelica (Trevor disease) of the ankle.

Dysplasia Epiphysealis Hemimelica (Trevor’s Disease) of Talus Treated with Excision, Periosteal Flap, and Open Wedge Osteotomy: A Case Report and Review of Literature

Abstract Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a rare disease which is skeletal developmental disorder characterized by asymmetrical growth of epiphyseal cartilage. It most frequently affects the ankle joint. Surgical treatment with complete resection is recommended before irreversible joint damage and deformity occurs. Multiple surgeries may be required if resected at an early age because recurrences are common until skeletal maturity. We present a case of DEH at the anteromedial aspect of a left ankle joint and a review of the literature.

Trevor disease (Dysplasia Epiphysealis Hemimelica) in children: A case report

Dysplasia Epiphysealis Hemimelica (DEH) or Trevor disease is a condition that affects skeletal development characterized by asymmetric abnormal growth in epiphyses cartilage

Dysplasia Epiphysealis Hemimelica in the Lower Extremity.

Because of the rarity of dysplasia epiphysealis hemimelica (DEH), little is known about the relationship between disease classification and clinical symptoms or patient outcomes. This studies therefore aims to characterize DEH of the lower extremity and correlate radiographic classification to presenting symptomatology and need for surgical intervention. A multi-center, retrospective review of all patients with DEH of the lower extremity over a 47-year period was conducted. Demographic data, presenting complaints, treatments, and symptoms at final follow-up were recorded. Radiographs were reviewed to classify lesions using the Universal Classification System for Osteochondromas (UCSO) and document the presence of solitary or multiple lesions within the involved joint. Correlative statistics were used to determine whether presenting complaints, lesion location or radiographic classification predicted the need for surgery or a pain-free outcome. Twenty-eight patients met inclusion criteria with an average age at presentation of 7.8 years. The ankle was the most commonly affected joint with 20/28 patients (71%) having lesions of the talus, distal tibia, or distal fibula. Patients with chief complaints of pain were more likely to undergo surgery than those with complaints of a mass or deformity ( P =0.03). Ankle lesions were more likely to be managed operatively than those of the hip or knee ( P =0.018) and all 12 patients with talar lesions underwent surgery. Neither the number of lesions nor lesion classification was predictive of surgical intervention or a pain-free outcome after surgery. Patients presenting with pain were more likely to have a pain-free outcome (11/14 patients) after surgery ( P =0.023) whereas all patients presenting with deformity who underwent surgery had pain at final follow-up. Although no single radiographic characteristic of DEH was predictive of surgical intervention or outcome, painful lesions of the ankle, and lesions of the talus were more likely to be managed operatively. Although surgery does not always result in a pain-free outcome, the operative management of painful lesions was more likely to provide a pain-free outcome than surgery for deformity or a mass.

Dysplasia Epiphysealis Hemimelica (Trevor’s Disease) in Children, Two New Cases: Diagnosis, Treatment, and Literature Review

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a rare nonhereditary skeletal disorder affecting one side of the epiphyses or the epiphyses-equivalents. It is often misdiagnosed for traumatic injuries, infections, or other tumors because of the nonspecific clinical features. The diagnosis is mostly based on radiographic involvement of one half of the epiphysis displaying an overgrowth; it is hard to distinguish between DEH and osteochondroma on the gross hystopathological exam. There are few immunohistochemical markers, as well as genetic tests, for EXT1 and EXT2 gene expression that can reveal a more accurate diagnosis. No evidence of malignant changes has been reported and no hereditary transmission or environmental factor has been incriminated as an etiological factor. The natural history of the disease is continuous growth of the lesions until skeletal maturity. Without treatment, the joint might suffer degenerative modification, and the patient can develop early onset osteoarthritis. In the present paper, we report two new cases of DEH of the ankle. The aim of this paper is to consider Trevor’s disease when encountering tumoral masses in the epiphyses of pediatric patients and to present our treatment approach and results.

Imaging in a case of classic Trevor’s disease

Trevor’s disease, also known as dysplasia epiphysealis hemimelica, is a rare developmental bone dysplasia, characterized by benign osteocartilaginous overgrowth pathologically indistinguishable from osteochondroma. The lesion arises from epiphysis more so on the medial aspect of long bones resulting in painless or painful deformities and limb length discrepancies. Imaging plays an important role in diagnosis as the features are characteristic in an appropriate demographic background. We report a case of Trevor’s disease in a 2-year male with multifocal involvement and characteristic imaging findings.

Dysplasia epiphysealis hemimelica of the radial head: a rare case report

BackgroundDysplasia epiphysealis hemimelica (DEH) is a rare benign overgrowth generally affecting the epiphyses and short bones of the lower limbs. DEH in the elbow joint is extremely rare, and to date, only three cases of DEH have been reported in the radial head.Case presentationIn this study, we report a case of DEH located in the radial head of the right elbow of a 10-year-old boy, which was presented with elbow pain and limited range of motion. In clinical examination, an asymmetrical enlargement was observed over the elbow. The lesion was resected surgically, and the patient’s symptoms resolved afterward. The histologic analysis of the lesion confirmed the diagnosis of DEH.ConclusionThis report highlights the role of DEH in the differential diagnosis of elbow pathologies, particularly its differentiation from osteochondroma.

Bilateral Shoulder Pain - Baseball

HISTORY: A 14-year-old right handed baseball player presents with two and a half years of insidious-onset bilateral shoulder pain. The pain is generalized in both shoulders, but worse anteriorly and in the right shoulder. He has continued to play year-round at an elite level, but he had to stop pitching due to pain. His shoulders “catch” and pain is exacerbated with rapid movements. PHYSICAL EXAM: Examination in clinic demonstrated tenderness of the anterior and posterior humeral head on the right and anterior humeral head on the left. Range of motion is limited in extension, internal rotation, and external rotation, and is full in flexion and abduction. Strength is full in all ranges of motion with pain in abduction, internal and external rotation. Hawkins, O’Brien’s, and Crank tests are positive for pain. He is distally neurovascularly intact. DIFFERENTIAL DIAGNOSIS: 1. Labral tear 2. Proximal Humeral Epiphysiolysis 3. Synovial Osteochondromatosis 4. Dysplasia Epiphysealis Hemimelica TEST AND RESULTS::Bilateral shoulder radiograph: Abnormal rounded ossific densities anterior to the right humeral head and metaphysis. Similar pattern of ossification anterior to the left humeral head,which is less well-defined than that seen in the right shoulder.Bilateral shoulder MR without contrast: Bilateral symmetric irregularly-shaped osteochondral fragments within the anterior glenohumeral joint spaces with evidence of erosions of the humeral head.Bilateral shoulder CT without contrast: Bony irregularity along the medial, proximal aspect of both humeri with clustered ossicles adjacent to the bony irregularity. No evidence of free intra-articular bodies. FINAL/WORKING DIAGNOSIS: Bilateral Synovial Osteochondromatosis of the Shoulders TREATMENT AND OUTCOMES: 1.Referred for a surgical consult, where non-operative treatment was recommended. 2.Started in physical therapy (PT). 3.Continued full participation in sports despite pain. 4.10-15% improvement after 3 months of PT. 5.Currently travelling for the winter baseball season and continuing PT at a distant site.

TKA in the treatment of bilateral dysplasia epiphysealis hemimelica (Trevor\u2019s Disease) of the knee in a 50-year-old man: a case report

BackgroundDysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a rare skeletal developmental disorder affecting the epiphyses in pediatric patients. DEH is characterized by an asymmetric osteochondral overgrowth arising from either the medial or lateral portion of an epiphysis and usually occurs in the joints of lower limbs, most commonly in the knees and ankles. However, bilateral involvement in an adult is extremely rare, and total knee arthroplasty (TKA) for a patient with DEH has been reported only once before.Case presentationHere, we present a case of bilateral DEH of the knees that caused varus deformity and dysfunction of the lower limbs in a 50-year-old man. TKA was performed for treatment, and the patient had satisfactory function with no angular knee deformity and a normal range of motion after 1 year of follow-up.ConclusionsThe patient in this case exhibited its specific clinical and radiological features of late-term DEH and TKA was proved to be an appropriate procedure for treating the severe deformity caused by this rare disease.

Multiple Hereditary Exostoses: Genetics, Multimodality Imaging Features, Complications, Differential Diagnosis, and Treatment

Osteochondromas are a common type of benign bone tumor that occur during childhood. Osteochondromas can be solitary or multifocal as a part of a syndrome, known as multiple hereditary exostoses (MHE). This differentiation was first discovered in 1786 by John Hunter, a famous Scottish surgeon. In 1814, MHE was found to have a familial association. Later, in the 1900s, MHE was differentiated from other disorders, such as Ollier disease (multiple enchondromatosis) and Trevor disease (dysplasia epiphysealis hemimelica). MHE is known by other names including hereditary multiple osteochondromas, diaphyseal aclasis, hereditary deforming chondrodysplasia, and Ehrenfried disease. MHE occurs more frequently in males than in females (1.5–2:1) and whites. Males also tend to be more severely affected. In patients with MHE, the mean number of osteochondromas is typically 15 to 18. Osteochondromas typically occur within the first decade of life (80%) and continue to increase in size until physeal closure. Osteochondromas are most commonly asymptomatic, although they can present with various symptoms including pain and limb length discrepancies. Osteochondromas have key imaging characteristics that help to differentiate them from other types of skeletal lesions and to characterize malignant potential.1

Benign bone tumours of tibial tuberosity clinically mimicking Osgood-Schlatter disease: a case series.

Osgood-Schlatter disease (OSD) is a traction apophysitis of the tibial tubercle and a common cause of anterior knee pain in growing adolescents. A variety of benign neoplasms can also cause bony prominence over the tibial tubercle in adolescents that might clinically imitate OSD. Therefore, the differential diagnosis of tumours mimicking OSD is critical and considered the primary goal of this study. Eleven patients who were referred to our orthopaedic oncology department with clinical suspicions of OSD and obscure radiographic presentation were identified. The final diagnosis was OSD in three cases. The demographic, clinical, and radiologic characteristics of the remaining eight patients in whom a tumour mimicked OSD were evaluated. The diagnosis was confirmed by pathologic examination. The final diagnosis was periosteal chondroma in four cases, osteochondroma in three cases, and dysplasia epiphysealis hemimelica (DEH) in one case. The average age of the patients was 10.5 ± 3.1years. In the majority of patients (62.5%), the lesion was painless. The mean size of the bump was 6.5 ± 1.2cm2. In patients with a painful knee, the pain was constant and activity-independent. At history taking, the pain and bump size were progressive. Lack of pain, progressive pain and bump, activity-independent pain, a bump size larger than 5cm2 at presentation, and age fewer than ten years could be considered in favour of tumours and against OSD.

Watching and waiting in chronic hip pain

An 18-year-old man was referred to our hospital for a planned total hip replacement. He had a long history of reduced mobility and pain in his left hip because of a developmental bone disorder, dysplasia epiphysealis hemimelica (DEH). The teenager was first suspected of having DEH following a consultation when he was 10 years old, but because of his young age, the medical team at the time decided to manage his condition conservatively. They were concerned a more interventionist approach was inappropriate at a young age as he had manageable symptoms and delaying hip replacement surgery would allow him to reach skeletal maturity.

More Than Epiphyseal Osteochondromas: Updated Understanding of Imaging Findings in Dysplasia Epiphysealis Hemimelica (Trevor Disease).

The purpose of this article is to discuss approaches to imaging dysplasia epiphysealis hemimelica in the context of recent advances in the understanding of the underlying pathophysiologic profile of this entity, which may result in pain, growth disturbance, and early development of osteoarthritis. Dysplasia epiphysealis hemimelica was first characterized as a skeletal disorder with osteochondromas characteristically involving epiphyses on one side of the same lower extremity. Upper extremity involvement was subsequently recognized. Previously conceptualized as epiphyseal osteochondromatosis, recent investigations have uncovered differences between these osteocartilaginous lesions and osteochondromas.

Hip Joint Trevor Disease: Literature Review and a Case Report

Trevor disease or dysplasia epiphysealis hemimelica (DEH) is an extremely rare condition with incidence of about 1:1,000,000. Male to female ratio of reporting case is 3:1, and usually diagnosed between two and eight years old. It usually affects the medial portion of the joint, but lateral involvement is not uncommon. Hip-joint was affected in less than 4% of existing cases in the literature. It would be very important to precisely mange the hip involvement to prevent from further articular cartilage destruction in this very young age. We report an infant boy with isolated DEH of hip. We found a total of 271 cases of DEH that reported between 1926 and 2017.The most sites of involvement are ankle joint and around the knee. Our search reaches out to ten cases of hip involvement. Hip involvement needs a patient specified decision. We observed our patient for three years with a desirable hip joint function.

Comment on the article ‘Dysplasia epiphysealis hemimelica of the knee

Comment on the article ‘Dysplasia epiphysealis hemimelica of the knee

Unusual presentation of osteochondroma (Trevor's disease)

Osteochondromas are common benign tumors. They probably are developmental malformation rather than true neoplasm and are thought to originate within the periosteum and small cartilage nodule. They rarely develop in the joint. Trevor disease or dysplasia epiphysealis hemimelica (DEH) refers to intraarticular epiphyseal osteochondroma. DEH has an incidence of 1 in 1 million and is characterized by asymmetric overgrowth of cartilage. Though many cases of DEH are asymptomatic, but they may be troublesome when they cause mechanical and pressure symptoms depending on the size and location. We report a case of Trevor's disease of the knee in a 21-year-old male with mechanical obstruction.

Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases

BackgroundDysplasia epiphysealis hemimelica (DEH) is a rare developmental bone disorder with hemimelic involvement of one or more epiphysis. We report on nine new cases and discuss the clinical manifestations, the value of MRI, and the results of complete and early surgical resection of these lesions. Materials and methodsIn this retrospective study, nine patients with a diagnosis of DEH were evaluated. Age at presentation ranged from 1year to 12years. The main complaint at diagnosis was a swelling bony mass. Angular deformities were recorded in two patients. All patients were surgically treated and followed up clinically and by imaging. Eight patients underwent excision only. ResultsThe average follow-up was 5.6years (range, 2–10.5years). All patients had a good outcome without related symptoms. No epiphysiodesis, angular deformity or recurrence was observed. One patient with femoral lesion involving the distal medial part of the epiphysis developed, four months after surgical excision, a calcification outside the area of total excision. This calcification did not increase in size at two years follow-up. Another patient with lateral involvement of the proximal tibial epiphysis presented a postoperative nervous complication. Spontaneous nervous recovery occurred three months after surgery. DiscussionMRI was useful to find a potential plane of cleavage between the epiphysis and the pathological tissue. We recommend early removing ossifications when a cleavage plane is identified. Waiting a possible complication or increasing of size does not seem logical. Of course, the treatment will be not the same if no cleavage plane is found on MRI. Level of evidenceIV.

Trevor's Disease: A Literature Review regarding Classification, Treatment, and Prognosis apropos of a Case.

Background. Dysplasia epiphysealis hemimelica (DEH) is rare and its main characteristic is osteochondromas of the epiphysis of long bones. Methods. We report a case of DEH of the ankle in an 8-year-old boy that was resected in 2005. Additionally we collect all the reported cases of DEH. The literature is reviewed regarding the treatment, prognosis, long term function, and patterns and areas affected by DEH. Results. In our case no complications were noted and our patient remains asymptomatic. Reviewing the literature we found that 73 authors have reported 144 cases from 1926 to 2013. We propose and describe a new classification that correlates with prognosis. According to our classification DEH is classified as types 1 with single lower limb involvement, 2 with multiple lower limb, 3 with single upper limb, 4 with multiple upper limb, 5 with upper and lower limb, and 6 with spine. Conclusions. All single lesions should be followed up and if indicated a whole body nuclear bone scan can be useful in identifying the existence of multiple affected joints. Type 1 lesions have better prognosis than 2 and have less chances of developing OA even if not resected. Resection, even if partial, can be a successful treatment for DEH.

Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee

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.

Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica