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

BACKGROUND: Dysplasia 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 PRESENTATION: In 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. CONCLUSION: This report highlights the role of DEH in the differential diagnosis of elbow pathologies, particularly its differentiation from osteochondroma.

Trevor's disease of the distal radioulnar joint in two children with achondroplasia.

Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and one was observed clinically due to lack of significant symptoms. These are the first presented cases of DEH in achondroplasia, both affecting the DRUJ. Due to the infrequency of DEH, more research is needed to better understand the potential connection to achondroplasia. For management, we suggest shared surgical decision making based on symptoms.

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

BACKGROUND: Dysplasia 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 PRESENTATION: Here, 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. CONCLUSIONS: The 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.

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

INTRODUCTION: 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. METHODS: 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. RESULTS: 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 ± 3.1 years. In the majority of patients (62.5%), the lesion was painless. The mean size of the bump was 6.5 ± 1.2 cm2. In patients with a painful knee, the pain was constant and activity-independent. At history taking, the pain and bump size were progressive. CONCLUSION: Lack of pain, progressive pain and bump, activity-independent pain, a bump size larger than 5 cm2 at presentation, and age fewer than ten years could be considered in favour of tumours and against OSD.

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

OBJECTIVE: 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. CONCLUSION: 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.

Dysplasia epiphysealis hemimelica of the lower limb.

Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder characterized by osteocartilaginous overgrowth in one or more epiphyses. The disease usually involves a single limb or is hemimelic (lateral or medial compartment), and lower extremities are more frequently affected than upper extremities. Here we present clinical and radiological findings for a male DEH patient at 1.5 and 3.5 years of age. The radiographs obtained at first presentation showed minimal osseous overgrowth and irregularity at the epiphyses around the left knee and ankle joints, respectively. Radiographs obtained at the second presentation showed osteocartilaginous masses at most epiphyses of the left lower extremity. Two months after diagnosis (at 3.7 years old), the patient had surgery on his left knee to relieve increased joint restriction. The histopathological diagnosis was consistent with an osteocartilaginous lesion. This case report presents imaging features and age-related progression of DEH in this patient.

Unveiling dysplasia epiphysealis hemimelica (Trevor's disease) in the foot and ankle: A systematic review.

Background: Dysplasia epiphysealis hemimelica is a rare non-inherited condition characterized by the unilateral predominance of osteochondromas in one or more epiphyses, with ankles and knees being the most affected joints. Treatment approaches vary based on the localization of the disease, encompassing both conservative and surgical options. Due to its rarity, there is a lack of definitive surgical guidelines or specific treatment modalities. Therefore, the objective of this systematic review was to thoroughly investigate dysplasia epiphysealis hemimelica to provide evidence-based guidance for managing this condition, specifically focusing on the foot and ankle. Methods: A systematic search was performed on PubMed and the Cochrane Library to identify all published articles related to dysplasia epiphysealis hemimelica of the foot and ankle. Individual patient information, such as gender, age, disease type, follow-up, localization, clinical presentation, intervention, and complications, were systematically extracted from each article and analyzed. Results: Twenty-five eligible publications were included in the review, involving a total of 70 patients (16 females, 53 males). The mean age was 9.6 years (SD 7.3). The talus was the most prevalent location and clinical presentations included mass and pain in 54% of cases. Surgical procedures were chosen in 92% of patients, with 95% undergoing mass excision. Recurrence was the most frequent complication, observed in 9% of cases. Conclusions: Raising awareness about dysplasia epiphysealis hemimelica is crucial for early diagnosis and treatment, positively impacting clinical outcomes. Vigilant monitoring is essential during observational management, as unchecked mass growth can complicate surgical intervention. Surgical treatment focuses on mass excision, feasible even at a young age but requiring precision to prevent recurrence or secondary arthritis. Level of evidence: IV.

Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Talus in a Toddler: A Case Report With a Long Follow-up.

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Solitary Extraskeletal Giant Osteochondroma of the Ankle in a Four-Year-Old Boy.

Solitary extraskeletal osteochondromas are rare benign lesions usually located close to a joint and are characterized by the absence of continuity with the adjacent bone. They are usually found in the hand and feet and are extremely rarely reported in the growing skeleton. In this paper, we describe a four-year-old boy who presented with a solitary calcified tumor in the posterior part of his ankle. We performed a detailed evaluation using plain X-rays, a CT scan, and an MRI, which revealed a well-demarcated calcified tumor that had the characteristics of an osteochondroma but without any continuity with the bones of the ankle joint. The lesion was treated surgically with the excision of a giant osteochondral lesion. Pathological examination revealed mature cartilage at the periphery with cancellous bone in the central part. Thus, we present the clinical and laboratory investigation of a solitary extraskeletal osteochondroma in the ankle of a four-year-old boy, which is an extremely rare case.

A Lumpy-Bumpy Painful Ankle - Trevor Disease of the Ankle in a 9-year-old.

Introduction: Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal development disorder of childhood, characterized by asymmetric growth of the epiphyseal cartilage in childhood. The disease can be locally aggressive at the ankle, and can result in deformity or instability. We present a case of Trevor disease involving the lateral aspect of distal tibia and talus in a 9-year-old patient, and of highlight its clinical and radiological presentation, treatment, and outcomes. Case Report: A 9-year-old male presented with a painful swelling over the lateral aspect of the dorsum of right ankle and foot swelling for the past 1.5 years. Radiographs and computed tomography scan revealed exostoses arising from the lateral distal tibial epiphysis and talar dome. Skeletal survey revealed cartilaginous exostoses in distal femoral epiphyses, confirming the diagnosis. Wide resection was done, and the patients were asymptomatic and recurrence-free at 8 months follow-up. Conclusion: Trevor disease around the ankle can have an aggressive course. Prompt recognition and timely surgical excision can prevent morbidity, instability, and deformity.

A Case Report of Trevor's Disease in a Pediatric Patient with Hereditary Multiple Exostoses Disease.

Introduction: Hereditary multiple exostoses (HME) disease is hallmarked by cartilaginous osteochondromas secondary to an autosomal dominant mutation within the exostosin gene family. These outgrowths predominantly occur around the long bone physis. An associated disease is dysplasia epiphysealis hemimelica also known as Trevor's disease. Trevor's disease is hallmarked by intra-articular osteochondromas. While the two diseases are similar, they are not genetically related and often have differing patient presentations. Case Report: We report on a case of a 7-year-old female with a familial history significant for HME that presented with an isolated chief complaint of elbow extension block secondary to osteochondromas found both intra-articular and at the olecranon fossa. We present what could be one of the first cases of coexisting HME and Trevor's disease of the upper extremity. Conclusion: Our patient's unique presentation of an intra-articular osteochondroma speculated to be a result of Trevor's disease, in the presence of an established HME diagnosis. Management for this patient did not deviate heavily from the established approach for HME which entails conservative observation until symptomatic. Due to the substantial loss of range of motion (ROM), surgical intervention took place in the form of exostoses removal and necessary reconstruction of the fossa. The patient's ROM subsequently was restored to near normal.

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.

Combined Anterior and Posterior Ankle Arthroscopy for Dysplasia Epiphysealis Hemimelica of the Ankle in a Child: A Case Report.

INTRODUCTION: Dysplasia Epiphysealis Hemimelica (DEH)is a rare developmental epiphyseal disease characterized by asymmetri cover growth of cartilage in the epiphysis, histologically mimics osteochondroma of the joints. The disease mainly involves ankle, knee and tarsal bones. Small number of cases is reported in literature particularly those managed arthroscopically. CASE REPORT: The present study reports a case of Dysplasia Epiphysealis Hemimelica (DEH) developed in the talus in male child presented with swelling, pain, and inability to put weight. Radiographs showed irregularities of the talar body with a large loose body in the anterior joint compartment with excessive overgrowth of the anteromedial and posteromedial aspects of the talus managed by combined anterior and posterior ankle arthroscopy in a single session and showed improvement of both pain and range of motion in the short-term follow-up. CONCLUSION: Trevor disease of the ankle is a rare disease that needs high index of suspicion for diagnosis and arthroscopy can be a minimally invasive option to improve pain and range of motion. This case report demonstrates basis on which such a rare disease can be diagnosed and shows the arthroscopic surgical technique details and its possible value in the outcome of these cases.

Arthroscopic treatment of intra-articular dysplasia epiphysealis hemimelica of the knee.

Dysplasia epiphysealis hemimelica, also known as Trevor Fairbank disease, is characterized by asymmetrical osteochondral overgrowth of the epiphyseal cartilage. The clinical presentation of dysplasia epiphysealis hemimelica is wide and variable, depending on the site of the lesion. Herein, we describe the physical examination of a 9-year-old boy with intra-articular dysplasia epiphysealis hemimelica, in whom the symptoms were elicited on "reverse Wilson's sign": bending the knee from 70° to 120° against resistance while externally rotating the tibia. Arthroscopic treatment of the intra-articular dysplasia epiphysealis hemimelica of the knee showed good outcome; hence, this modality should be considered for the management of intra-articular dysplasia epiphysealis hemimelica.

An unusual presentation of Trevor's disease at the ankle joint: Involvement of both medial and lateral epiphyses.

INTRODUCTION: Trevor's disease, also known as dyplasia epiphysealis hemimelica, is characterised by osteochondromas arising from epiphyses. The disease typically affects one side of an epiphysis (usually the medial side). CASE PRESENTATION: A case in whom both the medial and lateral sides of the epiphysis were involved is described. Thus, the use of the descriptor "hemimelica" is not always appropriate. CONCLUSION: Although rare, Trevor's disease should be kept in mind during the differential diagnosis of patients with ankle pain and a mass. Other possible joints should be examined to explore multiple involvement. Surgical treatment, only on lesions causing impingements, may improve functional status and reduce pain.

Dysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas.

PURPOSE: Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences exist between DEH and osteochondromas. The aim of this study was to test whether DEH and osteochondromas are histologically identical diseases. METHODS: Tissue samples of two age- and gender-matched cases with DEH and hereditary multiple exostoses were histologically compared. Sections were stained with Safranin-O for detection of proteoglycans and immunohistochemistry was performed for detection of collagen type II, collagen type X as a marker of hypertrophic chondrocytes and Sox9 as a marker of proliferative chondrocytes. Due to the rarity, descriptions of the included DEH patients were outlined. RESULTS: Histologically, chondrocyte clusters in a fibrillary matrix, a thick disorganised cartilage cap and ossification centres with small amounts of unabsorbed cartilage, were observed in DEH. In contrast, cartilage organisation of osteochondromas displays characteristics of the normal growth plate. Collagen type II was clearly detected in the cartilaginous extracellular matrix in osteochondromas, while weak expression was observed in DEH. Collagen type X was not detected in DEH, while expressed in the matrix surrounding hypertrophic chondrocytes in osteochondromas. Sox9 staining was positive in hypertrophic chondrocytes in osteochondromas, while expressed in nuclei of chondrocyte clusters in DEH. CONCLUSION: Both morphological and immunohistological differences were observed in histological sections of DEH and osteochondromas. These results support the previously identified clinical, radiological and genetic differences and imply a different aetiology between DEH and osteochondroma formation.

Novel case of Trevor's disease: Adult onset and later recurrence.

Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is an osteocartilaginous epiphyseal overgrowth typically occurring in children. The literature reports 6 adult cases and none describe recurrence requiring additional procedures. We present a new-onset proximal tibial DEH in an adult recurring approximately 3 years after open excision. A 39-year-old female presented with a history of right knee pain, swelling, and instability. Physical examination revealed a firm proximal tibial mass. Computed tomography (CT) imaging showed an exophytic, lobulated, sclerotic mass involving the anterolateral margin of the lateral tibial plateau. Magnetic resonance imaging was suggestive of an osteochondroma. The patient underwent curettage of the lesion due to its periarticular location. Histology revealed benign and reactive bone and cartilage consistent with periosteal chondroma. Two and a half years later, the patient presented with a firm, palpable mass larger than the initial lesion. CT revealed a lateral tibial plateau sclerotic mass consistent with recurrent intra-articular DEH. A complete excision was performed and histology showed sclerotic bone with overlying cartilage consistent with exostosis. DEH is a rare epiphyseal osteocartilaginous outgrowth frequently occurring in the long bones of children less than 8 years old. DEH resembles an osteochondroma due to its pediatric presentation and similar histologic appearance. Adult-onset cases comprise less than 1% of reported cases. Recurrence rate after surgical intervention is unknown. Only 1 such case, occurring in a child, has been described. Clinicians contemplating operative treatment for DEH should note the potential for recurrence and consider complete excision. A follow-up period of several years may be warranted to identify recurrent lesions.

Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle.

Dysplasia epiphysealis hemimelica, also termed Trevor disease, is a rare disorder that, although benign in nature, can be locally aggressive, particularly when affecting the ankle joint, which is the joint most frequently affected, followed by the knee. The female:male ratio is 1:3, and it is generally diagnosed between 2 and 14 years of age. Surgical treatment with complete resection is recommended before irreversible joint damage and deformity occurs. We presented a case in which dysplasia epiphysealis hemimelica was diagnosed on the medial aspect of a right ankle joint.

Dysplasia epiphysealis hemimelica (trevor syndrome) of talus in a 21-year old woman; case report.

Dysplasia epiphysealis hemimelica is a rare nonhereditary epiphyseal disease that mimics synovial chondromatosis and osteochondroma of the joints. The disease mainly involves long bones of the lower extremities and tarsal bones. Herein we report 21-year old woman who presented with pain and limited range of ankle motion, who underwent surgical excision of talus exostosis after preoperative imaging and careful planning. after that she was discharged and her problem improved and she have no problem in three year follow up. pathologic examination of specimen confirm the diagnosis.

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

BACKGROUND: Dysplasia 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 METHODS: In this retrospective study, nine patients with a diagnosis of DEH were evaluated. Age at presentation ranged from 1 year to 12 years. 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. RESULTS: The average follow-up was 5.6 years (range, 2-10.5 years). 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. DISCUSSION: MRI 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 EVIDENCE: IV.