|
1
|
Artioli E, Mazzotti A, De Pellegrin M, Arceri A, Zielli SO, Langone L, Faldini C. Unveiling dysplasia epiphysealis hemimelica (Trevor's disease) in the foot and ankle: A systematic review. J Orthop 2024; 52:49-54. [PMID: 38435317 PMCID: PMC10901691 DOI: 10.1016/j.jor.2024.02.036] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/14/2024] [Accepted: 02/19/2024] [Indexed: 03/05/2024] Open
Abstract
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.
Collapse
Affiliation(s)
- Elena Artioli
- IRCCS Istituto Ortopedico Rizzoli, Via Giulio Cesare Pupilli 1, 40136, Bologna, Italy
- 1st Orthopaedic and Traumatologic Clinic, Italy
- Department of Biomedical and Neuromotor Sciences, University of Bologna, 40123, Bologna, Italy
| | - Antonio Mazzotti
- IRCCS Istituto Ortopedico Rizzoli, Via Giulio Cesare Pupilli 1, 40136, Bologna, Italy
- 1st Orthopaedic and Traumatologic Clinic, Italy
- Department of Biomedical and Neuromotor Sciences, University of Bologna, 40123, Bologna, Italy
| | - Maurizio De Pellegrin
- Pediatric Orthopedic Unit, Piccole Figlie Hospital, Parma, Italy
- Department of Orthopedics, ASST Ospedale Papa Giovanni XXIII, Bergamo, Italy
| | - Alberto Arceri
- IRCCS Istituto Ortopedico Rizzoli, Via Giulio Cesare Pupilli 1, 40136, Bologna, Italy
- 1st Orthopaedic and Traumatologic Clinic, Italy
| | - Simone Ottavio Zielli
- IRCCS Istituto Ortopedico Rizzoli, Via Giulio Cesare Pupilli 1, 40136, Bologna, Italy
- 1st Orthopaedic and Traumatologic Clinic, Italy
| | - Laura Langone
- IRCCS Istituto Ortopedico Rizzoli, Via Giulio Cesare Pupilli 1, 40136, Bologna, Italy
- 1st Orthopaedic and Traumatologic Clinic, Italy
| | - Cesare Faldini
- IRCCS Istituto Ortopedico Rizzoli, Via Giulio Cesare Pupilli 1, 40136, Bologna, Italy
- 1st Orthopaedic and Traumatologic Clinic, Italy
- Department of Biomedical and Neuromotor Sciences, University of Bologna, 40123, Bologna, Italy
| |
Collapse
|
|
2
|
Bacon A, Delman CM, Reynolds JP, Haus B. Treatment of Dysplasia Epiphysealis Hemimelica with Autologous Chondrocyte Implantation: A Case Report. JBJS Case Connect 2022; 12:1-6. [PMID: 36206489 DOI: 10.2106/jbjs.cc.21.00668] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/16/2023]
Abstract
CASE We present a case of dysplasia epiphysealis hemimelica (DEH) involving the posteromedial distal femur in a 4-year-old girl. The patient underwent lesion resection with internal fixation of the articular cartilage followed by autologous chondrocyte implantation (ACI) to restore the articular surface and epiphysis. At the 7-year follow-up, the patient had no pain or difficulty with participation in sports. Advanced imaging showed a stable articular surface with evidence of durable cartilage integration. CONCLUSION DEH is a rare disease often treated by resection. In cases where the articular surface of the knee is involved, we have demonstrated that augmentation with ACI can be an effective treatment option.
Collapse
Affiliation(s)
- Adam Bacon
- Shriners Hospital for Children-Northern California, Department of Orthopaedic Surgery, UC Davis Department of Orthopaedic Surgery, Sacramento, California
| | - Connor M Delman
- Shriners Hospital for Children-Northern California, Department of Orthopaedic Surgery, UC Davis Department of Orthopaedic Surgery, Sacramento, California
| | - James Phillip Reynolds
- Shriners Hospital for Children-Northern California, Department of Orthopaedic Surgery, UC Davis Department of Orthopaedic Surgery, Sacramento, California
| | - Brian Haus
- Shriners Hospital for Children-Northern California, Department of Orthopaedic Surgery, UC Davis Department of Orthopaedic Surgery, Sacramento, California
| |
Collapse
|
|
3
|
Zhang B, Margalit A, Lee RJ, Shannon CE. Bilateral Toe Walking as Presentation of Unilateral Dysplasia Epiphysealis Hemimelica of the Ankle: A Case Report. JBJS Case Connect 2021; 11:01709767-202112000-00045. [PMID: 34762603 DOI: 10.2106/jbjs.cc.21.00264] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/13/2023]
Abstract
CASE We describe a case of dysplasia epiphysealis hemimelica (DEH) of the anterior tibiotalar joint that presented as toe walking in a 6-year-old boy. Radiographs and magnetic resonance images showed substantial exostosis at the anterior ankle that blocked dorsiflexion. He underwent surgical excision and casting for equinus, restoring ankle range of motion and gait. CONCLUSION Although DEH is benign, it can cause major deficits and permanent damage to a joint when neglected. Recognition of subtle presentations of DEH, such as toe walking, is crucial. Early treatment can restore joint motion and prevent deformity and arthritis.
Collapse
Affiliation(s)
- Bo Zhang
- Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, Maryland
| | | | | | | |
Collapse
|
|
4
|
TKA in the treatment of bilateral dysplasia epiphysealis hemimelica (Trevor's Disease) of the knee in a 50-year-old man: a case report. BMC Musculoskelet Disord 2020; 21:167. [PMID: 32171273 PMCID: PMC7071648 DOI: 10.1186/s12891-020-3146-3] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/28/2019] [Accepted: 02/17/2020] [Indexed: 11/10/2022] Open
Abstract
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.
Collapse
|
|
5
|
Stevens J, Welting TJM, Witlox AM, van Rhijn LW, Staal HM. Dysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas. J Child Orthop 2017; 11:160-168. [PMID: 28828057 PMCID: PMC5548029 DOI: 10.1302/1863-2548.11.160208] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/03/2023] Open
Abstract
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.
Collapse
Affiliation(s)
- J. Stevens
- Department of Orthopaedic Surgery, Research School CAPHRI, Maastricht University Medical Centre, Maastricht, The Netherlands
| | - T. J. M. Welting
- Department of Orthopaedic Surgery, Research School CAPHRI, Maastricht University Medical Centre, Maastricht, The Netherlands
| | - A. M. Witlox
- Department of Orthopaedic Surgery, Research School CAPHRI, Maastricht University Medical Centre, Maastricht, The Netherlands
| | - L. W. van Rhijn
- Department of Orthopaedic Surgery, Research School CAPHRI, Maastricht University Medical Centre, Maastricht, The Netherlands
| | - H. M. Staal
- Department of Orthopaedic Surgery, Research School CAPHRI, Maastricht University Medical Centre, Maastricht, The Netherlands,Correspondence should be sent to: Dr H. M. Staal, Department of Orthopaedic Surgery, Maastricht University Medical Centre+ P. Debyelaan 25, P.O. Box 5800, 6202AZ Maastricht, The Netherlands. E-mail:
| |
Collapse
|
|
6
|
Khalsa AS, Kumar NS, Chin MA, Lackman RD. Novel case of Trevor’s disease: Adult onset and later recurrence. World J Orthop 2017; 8:77-81. [PMID: 28144583 PMCID: PMC5241549 DOI: 10.5312/wjo.v8.i1.77] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/12/2016] [Revised: 08/18/2016] [Accepted: 10/18/2016] [Indexed: 02/06/2023] Open
Abstract
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.
Collapse
|
|
7
|
Comment to: Kulkarni U. Posterior talus osteochondroma a rare location, treated by posterior ankle arthroscopy. Foot Ankle Surg 2015;21(Sep (3)):e51-4. Foot Ankle Surg 2016; 22:286-287. [PMID: 27810030 DOI: 10.1016/j.fas.2015.12.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/24/2015] [Accepted: 12/24/2015] [Indexed: 02/04/2023]
|
|
8
|
Ozan F, Doğar F, Gürbüz K, Ekinci Y, Bilal Ö, Öncel ES. Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle. Ther Clin Risk Manag 2016; 12:545-7. [PMID: 27103813 PMCID: PMC4827879 DOI: 10.2147/tcrm.s92684] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/02/2022] Open
Abstract
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.
Collapse
Affiliation(s)
- Fırat Ozan
- Department of Orthopedics and Traumatology, Kayseri Training and Research Hospital, Kayseri, Turkey
| | - Fatih Doğar
- Department of Orthopedics and Traumatology, Kayseri Training and Research Hospital, Kayseri, Turkey
| | - Kaan Gürbüz
- Department of Orthopedics and Traumatology, Kayseri Training and Research Hospital, Kayseri, Turkey
| | - Yakup Ekinci
- Department of Orthopedics and Traumatology, Develi Hatice Muammer Kocatürk State Hospital, Kayseri, Turkey
| | - Ökkeş Bilal
- Department of Orthopedics and Traumatology, Kahramanmaraş Sütçü İmam University Medical Faculty, Kahramanmaraş, Turkey
| | - Eyyüp Sabri Öncel
- Department of Orthopedics and Traumatology, Kayseri Training and Research Hospital, Kayseri, Turkey
| |
Collapse
|