{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T07:06:17Z","timestamp":1792134377156,"version":"4.4.0"},"reference-count":34,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T00:00:00Z","timestamp":1633996800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Dysplasia epiphysealis hemimelica (DEH), also known as Trevor\u2019s 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\u2019s disease when encountering tumoral masses in the epiphyses of pediatric patients and to present our treatment approach and results.<\/jats:p>","DOI":"10.3390\/children8100907","type":"journal-article","created":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T04:51:57Z","timestamp":1634100717000},"page":"907","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Dysplasia Epiphysealis Hemimelica (Trevor\u2019s Disease) in Children, Two New Cases: Diagnosis, Treatment, and Literature Review"],"prefix":"10.3390","volume":"8","author":[{"given":"Adelina","family":"Ionescu","sequence":"first","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery, \u201cGrigore Alexandrescu\u201d Clinical Emergency Hospital for Children, 011743 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bogdan","family":"Popescu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery, \u201cGrigore Alexandrescu\u201d Clinical Emergency Hospital for Children, 011743 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0969-9124","authenticated-orcid":false,"given":"Oana","family":"Neagu","sequence":"additional","affiliation":[{"name":"Department of Pathology, \u201cGrigore Alexandrescu\u201d Clinical Emergency Hospital for Children, 011743 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0606-4975","authenticated-orcid":false,"given":"Madalina","family":"Carp","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery, \u201cGrigore Alexandrescu\u201d Clinical Emergency Hospital for Children, 011743 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iulia","family":"Tevanov","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Surgery, \u201cGrigore Alexandrescu\u201d Clinical Emergency Hospital for Children, 011743 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Balanescu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, \u201cGrigore Alexandrescu\u201d Clinical Emergency Hospital for Children, 011743 Bucharest, Romania"},{"name":"Department of Pediatric Surgery and Orthopedics, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 050474 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radu Ninel","family":"Balanescu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, \u201cGrigore Alexandrescu\u201d Clinical Emergency Hospital for Children, 011743 Bucharest, Romania"},{"name":"Department of Pediatric Surgery and Orthopedics, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 050474 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4103\/0022-3859.128794","article-title":"Dysplasia epiphysealis hemimelica: A diagnostic dilemma for orthopedic surgeons and a nightmare for parents","volume":"60","author":"Gokkus","year":"2014","journal-title":"J. Postgrad. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2472","DOI":"10.1007\/s11999-009-0925-4","article-title":"Dysplasia Epiphysealis Hemimelica: A Case Report with Novel Pathophysiologic Aspects","volume":"467","author":"Perl","year":"2009","journal-title":"Clin. Orthop. Relat. Res."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"77","DOI":"10.5312\/wjo.v8.i1.77","article-title":"Novel case of Trevor\u2019s disease: Adult onset and later recurrence","volume":"8","author":"Khalsa","year":"2017","journal-title":"World J. Orthop."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1302\/0301-620X.32B2.204","article-title":"Tarso-Epiphysial Aclasis","volume":"32","author":"Trevor","year":"1950","journal-title":"J. Bone Jt. Surgery. Br. Vol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1097\/BPB.0000000000000269","article-title":"Trevor\u2019s disease: Up-to-date review of the literature with case series","volume":"26","author":"Gokkus","year":"2017","journal-title":"J. Pediatr. Orthop. B"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1302\/0301-620X.38B1.237","article-title":"Dysplasia Epiphysialis Hemimelica (tarso-ephiphysial aclasis)","volume":"38","author":"Fairbank","year":"1956","journal-title":"J. Bone Jt. Surgery. Br. Vol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"409","DOI":"10.2106\/00004623-200003000-00012","article-title":"Dysplasia Epiphysealis Hemimelica of the Acetabulum. A report of two cases","volume":"82","author":"Skaggs","year":"2000","journal-title":"J. Bone Jt. Surg. Am. Vol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"986","DOI":"10.2106\/00004623-199407000-00005","article-title":"The natural history of hereditary multiple exostoses","volume":"76","author":"Schmale","year":"1994","journal-title":"J. Bone Jt. Surg. Am. Vol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1302\/0301-620X.65B3.6841410","article-title":"Dysplasia epiphysialis hemimelica. A clinical and genetic study","volume":"65","author":"Connor","year":"1983","journal-title":"J. Bone Jt. Surgery. Br. Vol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.2106\/00004623-197456070-00021","article-title":"Familial dysplasia epiphysealis hemimelica, associated with chon-dromas and osteochondromas. Report of a kindred with variable presentations","volume":"56","author":"Hensinger","year":"1974","journal-title":"J. Bone. Jt. Surg. Am."},{"key":"ref_11","first-page":"1","article-title":"Besondere F\u00e4lle der Dysplasia epiphysealis hemimelica","volume":"79","year":"1974","journal-title":"Arch. Orthop. Trauma Surg."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/BF02387852","article-title":"The variable manifestations of dysplasia epiphysealis hemimelica","volume":"15","author":"Azouz","year":"1985","journal-title":"Pediatr. Radiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1080\/17453670710014662","article-title":"Dysplasia epiphysealis hemimelica (Trevor\u2019s disease): 7 of our own cases and a review of the literature","volume":"78","author":"Rosero","year":"2007","journal-title":"Acta Orthop."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"e967","DOI":"10.3928\/01477447-20160526-03","article-title":"Trevor\u2019s Disease: Management Difficulties and Proposed Classification","volume":"39","author":"Clarke","year":"2016","journal-title":"Orthopedics"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1007\/s00264-018-3841-y","article-title":"Treatment of the aneurysmal bone cyst by percutaneous intracystic sclerotherapy using ethanol ninety five percent in children","volume":"42","author":"Ulici","year":"2018","journal-title":"Int. Orthop."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1177\/0300060517722244","article-title":"Aggressive development of an aneurysmal bone cyst of the proximal femur in a paediatric patient: A case report","volume":"46","author":"Ulici","year":"2018","journal-title":"J. Int. Med. Res."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"172","DOI":"10.21614\/chirurgia.112.2.172","article-title":"Surgical Treatment of an Aneurysmal Bone Cyst with Avascular Bone Graft","volume":"112","author":"Ulici","year":"2017","journal-title":"Chirurgia"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"279","DOI":"10.4323\/rjlm.2017.279","article-title":"The use of 3D printing in improving patient-doctor relationship and malpractice prevention","volume":"25","author":"Tevanov","year":"2017","journal-title":"Rom. J. Leg. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1053\/j.jfas.2012.05.008","article-title":"Treatment of Dysplasia Epiphysealis Hemimelica: A Systematic Review of Published Reports and a Report of Seven Patients","volume":"51","author":"Struijs","year":"2012","journal-title":"J. Foot Ankle Surg."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"187","DOI":"10.3109\/17453674.2014.889979","article-title":"Validity, reliability, and responsiveness of the Self-reported Foot and Ankle Score (SEFAS) in forefoot, hindfoot, and ankle disorders","volume":"85","author":"Bremander","year":"2014","journal-title":"Acta Orthop."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1097\/01241398-199807000-00028","article-title":"Dysplasia Epiphysealis Hemimelica: Clinical Features and Management","volume":"18","author":"Kuo","year":"1998","journal-title":"J. Pediatr. Orthop."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1177\/230949900501300115","article-title":"Dysplasia Epiphysealis Hemimelica of the Talus: Two Case Reports","volume":"13","author":"Bhosale","year":"2005","journal-title":"J. Orthop. Surg."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"273","DOI":"10.4103\/jpgm.JPGM_235_17","article-title":"Unusual presentation of chondroblastoma mimicking Trevor\u2019s disease","volume":"63","author":"Nair","year":"2017","journal-title":"J. Postgrad. Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.jbspin.2004.04.003","article-title":"Dysplasia epiphysealis hemimelica in a young girl: Role of MRI in the diagnosis and follow-up","volume":"72","author":"Acquaviva","year":"2005","journal-title":"Jt. Bone Spine"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1080\/00016470310014012","article-title":"Wedge excision chondroplasty of the knee in dysplasia epiphysealis hemimelica\u2014Report of 2 cases","volume":"74","author":"Skripitz","year":"2003","journal-title":"Acta Orthop. Scand."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/s007760100032","article-title":"Limb-lengthening and angular correction for dysplasia epiphysealis hemimelica","volume":"6","author":"Nishiyama","year":"2001","journal-title":"J. Orthop. Sci."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/path.1985","article-title":"EXT-related pathways are not involved in the patho-genesis of dysplasia epiphysealis hemimelica and metachondromatosis","volume":"209","author":"Hameetman","year":"2006","journal-title":"J. Pathol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1359\/jbmr.2000.15.8.1489","article-title":"EXT 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses","volume":"15","author":"Rossi","year":"2000","journal-title":"J. Bone Miner. Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1302\/1863-2548.11.160208","article-title":"Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas","volume":"11","author":"Stevens","year":"2017","journal-title":"J. Child. Orthop."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.2298\/VSP130111019J","article-title":"Dysplasia epiphysealis hemimelica: A case report","volume":"71","author":"Mihajlovic","year":"2014","journal-title":"Vojnosanit. Pregl."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"249","DOI":"10.4081\/1687","article-title":"Expression of collagen type I, II, X and Ki-67 in osteochondroma compared to human growth plate cartilage","volume":"46","author":"Huch","year":"2002","journal-title":"Eur. J. Histochem."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ajmg.1320550113","article-title":"Natural history study of hereditary multiple exostoses","volume":"55","author":"Wicklund","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"ref_33","first-page":"134","article-title":"Current Knowledge on Exostoses Formation in Hereditary Multiple Exostoses: Where do Exostoses Originate and in What Way is their Growth Regulated","volume":"3","author":"Staal","year":"2014","journal-title":"Hered. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s10195-008-0029-z","article-title":"Dysplasia epiphysealis hemimelica of the talus","volume":"10","author":"Azzoni","year":"2009","journal-title":"J. Orthop. Traumatol."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/8\/10\/907\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:12:09Z","timestamp":1760166729000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/8\/10\/907"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,12]]},"references-count":34,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2021,10]]}},"alternative-id":["children8100907"],"URL":"https:\/\/doi.org\/10.3390\/children8100907","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,12]]}}}