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 patientâ��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. Â© 2021, The Author(s)

Bahardoust, M.

Mohamadian, H.

Saberi, S.

Sanandaji, B.M.

eprints Iran University of Medical Sciences

CASE REPORT Open AccessDysplasia epiphysealis hemimelica of theradial head: a rare case reportHiva Mohamadian1*, Mansour Bahardoust2,3, Borzouyeh Molazem Sanandaji1 and Saba Saberi1AbstractBackground: Dysplasia epiphysealis hemimelica (DEH) is a rare benign overgrowth generally affecting theepiphyses and short bones of the lower limbs. DEH in the elbow joint is extremely rare, and to date, only threecases 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, anasymmetrical enlargement was observed over the elbow. The lesion was resected surgically, and the patient’ssymptoms 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 itsdifferentiation from osteochondroma.Keywords: Dysplasia epiphysealis hemimelica, Trevor’s disease, Radial head, ElbowBackgroundDysplasia epiphysealis hemimelica (DEH), also known asTrevor’s disease, is a nonhereditary developmental dis-order with unknown etiology consisting of a benignintra-articular mass confined by epiphysis of long bones[1, 2]. It is an osteocartilaginous lesion resulting from anabnormal proliferation of cartilage tissue, which gener-ally involves one-half of the epiphysis, therefore termed‘hemimelic’ [2]. DEH is an extremely rare condition thatmainly affects children aged 2–15 years, with an inci-dence of 1 in 1,000,000 individuals [1, 3]. Although thehistological findings of DEH are similar to osteochon-droma, its clinical, radiological, histological, and molecu-lar characteristics favor a different entity [4]. However,differentiation of DEH with chondroblastoma [5] andparosteal osteosarcoma could be challenging, particularlyin the early stages [6].DEH mostly occur in the lower limb, and upper limbinvolvement is very rare. The carpal bones and the wristare the most frequent upper-extremity involvement ofDEH [7]. To the best of our knowledge, only a few num-bers of DEH have been reported around the elbow [8].In this study, we report a case of DEH located in the ra-dial head of a 10-year-old boy, which was presented withpain and limited elbow range of motion.The patient’s parents provided written informed con-sent to use the data attributed to this case forpublication.Case presentationA 10-year-old boy was referred to our center with apainful right elbow. The patient and his family had noconsiderable medical history. The patient had no historyof elbow trauma and surgery, as well. In clinical examin-ation, an asymmetric enlargement was noticed on theright elbow. In physical examination, the elbow range ofmotion was restricted so that a flexion-extension motionarc of 30–90° and 15° of pronation to 20° of supinationwas recorded.© The Author(s). 2021 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License,which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you giveappropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate ifchanges were made. The images or other third party material in this article are included in the article's Creative Commonslicence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commonslicence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtainpermission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to thedata made available in this article, unless otherwise stated in a credit line to the data.* Correspondence: garza.1390@yahoo.com1Rasoul-e-Akram Hospital, Iran University of Medical Sciences, Tehran, IranFull list of author information is available at the end of the articleMohamadian et al. BMC Musculoskeletal Disorders          (2021) 22:151 https://doi.org/10.1186/s12891-021-04004-2The findings on the plain radiograph (Fig. 1a) andcomputed tomography (CT) scan (Fig. 1b) revealed anirregular mass with focal ossification at the epiphysealsection of the proximal radius. Magnetic resonance im-aging (MRI) demonstrated an epiphyseal osteocartilagi-nous lesion originating in the radial head epiphysis(Fig. 1c). The annular ligament could not be seen clearlyin preoperative MRI. With suspecting a diagnosis ofDEH, the decision was made for resecting the lesion sur-gically. Under general anesthesia, in a supine position,and through the anterior-lateral approach to the radialhead, the lesion was resected and sent to the pathologydepartment for further evaluation. The remnant of theannular ligament was seen intraoperatively and resected.The histologic evaluation of the excised lesion revealedclusters of chondrocyte arranged in a fibrillary matrix, athick cartilaginous cap, and ossification centers, whichwere consistent with the diagnosis of DEH (Fig. 2).The patient’s arm was supported in a swathe and slingfor 2 weeks. The full range of motion exercises andphysical therapy was administered two times a week.The first visit to the patient was 2 weeks after the sur-gery. The patient had no pain, and the elbow range ofmotion was near to normal (flexion-extension: 0–130°,pronation: 50°, supination: 50°). At the six-monthfollow-up, the patient was still pain-free and had a fullrange of elbow movements. No sign of recurrence wasnoticed in the follow-up radiographs. Secondary ossifica-tion or growth arrest of the forearm bones was not seeneither (Fig. 3).Discussion and conclusionIn this study, we reported a case of DEH presented inthe right elbow of a 10-year-old boy, which was associ-ated with pain and limited elbow range of motion. Thedefinitive diagnosis of DEH was made based on theFig. 1 a Plain radiograph and b CT scan of the elbow showing irregular mass with focal ossification at the epiphyseal section of the proximalradius; c MRI of the elbow showing an epiphyseal osteocartilaginous lesion originating in the radial head epiphysis, Fig. 2: The histologic of theexcised lesion revealed clusters of chondrocyte arranged in a fibrillary matrix, a thick cartilaginous cap, and ossification centersFig. 2 Histologic analysis of the lesion showing clusters of chondrocyte arranged in a fibrillary matrix, a thick cartilaginous cap, andossification centersMohamadian et al. BMC Musculoskeletal Disorders          (2021) 22:151 Page 2 of 4histologic analysis of the excised specimen. The patientremained symptom-free after the resection, and no signof recurrent was seen in the follow-up radiographs.DEH of the upper extremity is rare. Nearly 39 cases ofupper-extremity DEH have been reported in earlier lit-erature from which DEH of the elbow is reported in 8cases. Radial head involvement has been reported in 3out of these 7 cases [9].Kircher et al. reported a case of DEH in a 17-year-oldboy who was admitted with the diagnosis of a recurrentcartilaginous exostosis at the radial head 4 years afterinitial excision. The patient was presented with elbowtenderness and limited range of motion. On the clinicalexamination, a progressive enlargement was noticed atthe left elbow. The lesion was resected surgically, andthe histological analysis of the extracted specimen con-firmed the diagnosis of DEH. At the final follow-up, 16months after the surgery, the patient was pain-free func-tion and had no limitation in the elbow range of motion.Moreover, no sign of recurrence was presented on thefollow-up radiographs [9]. The presentation and out-come of DEH in our case were very similar to the caseof Kircher et al. The DEH of the elbow has also been re-ported in two other investigations [3, 10].Osteochondroma is the most frequent differentialdiagnosis of DEH, as malignant transformation is seen in1% of solitary osteochondromas, but not in DEH [11].This differentiation can be made using clinical, radio-logic, and pathologic parameters. While DEH generallyoccurs in young children aged 2–15 years and originatesin the epiphysis of long bones, osteochondroma mostfrequently occurs at the age of 10–30 years of age andoriginates from the metaphysis. Histologically, DEH pre-sents with a thick disorganized cartilage cap, whereasosteochondromas present with organized cartilage re-sembling the normal growth plate [4, 12].Parosteoal osteosarcoma and DEH can also be some-times difficult to differentiate, particularly in the earlystages and if the talus is affected. In these cases, CTscanning could be very helpful in identifying calcificationor ossification within the DEH lesion [13].The decision for surgical treatment of DEH dependson several factors, such as the symptoms, location, andsize of the lesion. Generally, surgical excision is onlyconsidered for those patients with pain or functionallimitation. Since the malignant transformation of DEHhas not been reported, observation might be enough forasymptomatic cases. However, delayed diagnosis ortreatment might result in an enlarged intra-articularmass, making the decision for surgical treatment moredifficult. Therefore, early excision is recommended de-pending on the location of DEH [14]. To avoid unneces-sary surgical intervention, a preoperative biopsy could beuseful, particularly in the early stages of the disease orwhen the lesion is presented in unusual locations [15].Based on our experience, DEH of the radial head couldbe favorably treated with surgical excision, and the pa-tient’s symptoms will completely resolve afterward. TheFig. 3 a Anteroposterior and b lateral radiograph of the elbow 1 year after the surgery showing no sign of secondary ossification or growtharrest of the forearm boneMohamadian et al. BMC Musculoskeletal Disorders          (2021) 22:151 Page 3 of 4present case raises awareness regarding the importanceof DEH in the differential diagnosis of elbow patholo-gies, particularly with osteochondroma.AbbreviationsDEH: Dysplasia Epiphysealis Hemimelica; CT: Computerized TomographicAcknowledgementsHerby, the authors would like to express gratitude to the Vice Chancellor forresearch of Iran University of Medical Sciences.Authors’ contributionsConception and design: S. S, B. M and H. M. Analysis and interpretation ofdata: M. B. Data collection: M. B, H. M. Authors participate in drafting thearticle or revising: S. S, B. M, M. B and H.M. All authors have read andapproved the manuscript and ensure that this is the case. I attest to the factthat all authors listed on the title page have read and approved themanuscript, attest to the validity and legitimacy of the data and itsinterpretation, and agree to its submission to “BMC MusculoskeletalDisorders” for an evaluation and reviewing for maybe publishing.Authors’ informationSaba Saberi (MD, Resident of Radiology, Rasoul-e- Akram Hospital, Iran Uni-versity of Medical Sciences, Tehran, Iran), Borzouyeh Molazem sanandaji (M.D,Resident of Orthopedic, Rasoul-e-Akram Hospital, Iran University of MedicalSciences, Tehran, Iran), Mansour Bahardoust (Bone and Joint ReconstructionResearch Center, Shafa Orthopedic Hospital, Iran University of Medical Sci-ences, Tehran, Iran), Hiva Mohamdian (Assistant Professor of Orthopedic sur-geon, Rasoul-e-Akram Hospital, Iran University of Medical Sciences, Tehran,Iran)FundingWe have no funding resource for this study.Availability of data and materialsNot applicable.Ethics approval and consent to participateThis study was approved by the ethics committee of Iran University ofmedical science.Consent for publicationWritten informed consent was obtained from the patients’ mother forpublication of this case report and any accompanying images.Competing interestsThe authors declare that they have no competing interests.Author details1Rasoul-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.2Department of Epidemiology, School of Public Health, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran. 3Bone and Joint ReconstructionResearch Center, Shafa Orthopedic Hospital, Iran University of MedicalSciences, Tehran, Iran.Received: 2 May 2020 Accepted: 20 January 2021References1. 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Dysplasiaepiphysealis hemimelica: a histological comparative study withosteochondromas. J Child Orthop. 2017;11(3):160–8.13. Arealis G, Nikolaou VS, Lacon A, Ashwood N, Hayward K, Karagkevrekis C.Trevor’s disease: a literature review regarding classification, treatment, andprognosis apropos of a case. Case Rep Orthop. 2014;2014:940360.14. Luevitoonvechkij S, Khunsree S, Sirirungruangsarn Y, Settakorn J. Dysplasiaepiphysealis hemimelica: a huge articular mass with unpredictable surgicalresults. Case Rep. 2012;2012:bcr2012007259.15. Gao F, Chen G, Wang R, Huang P, Wang J, Xu W. TKA in the treatment ofbilateral dysplasia epiphysealis hemimelica (Trevor's disease) of the knee ina 50-year-old man: a case report. BMC Musculoskelet Disord. 2020;21(1):1–5.Publisher’s NoteSpringer Nature remains neutral with regard to jurisdictional claims inpublished maps and institutional affiliations.Mohamadian et al. BMC Musculoskeletal Disorders          (2021) 22:151 Page 4 of 4

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

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

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