NORD gratefully acknowledges German C. Steiner, MD, Clinical Professor of Pathology, NYU School of Medicine, New York, for assistance in the preparation of this report.
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a developmental bone disease of childhood. It is rare and clinical experience with this condition is limited. Most cases are diagnosed before 8 years of age. It is characterized by an abnormal growth of cartilage arising from the cartilage of the terminal ends (epiphysis) of the long bones, particularly of the lower limbs. The bones of the knee and ankle joints are most commonly affected, as well as part of the foot (tarsal bones). The upper limbs and spine are rarely involved. The abnormal cartilage produces an irregular nodular mass located either in the medial or lateral part of the bone (hemimelic), usually medial. DEH may affect a single bone (localized form), multiple bones in a single limb (classical form) or an entire limb (generalized) usually involving a leg from the pelvis to the foot. Approximately two-thirds of affected children have multiple lesions. DEH was first described in the medical literature in 1926. Trevor recognized this condition in 1950. The name, dysplasia epiphysealis hemimelica first appeared in the medical literature in 1956.
The symptoms present in each child with DEH vary depending on the location and size of the cartilage mass. The most common is a painless mass or swelling on one side of an affected joint, particularly the medial side. Pain usually occurs at a later stage of the disease.
Additional symptoms have been reported including decreased range of motion of affected joints, joint deformity, limb length discrepancy, and muscle wasting in the affected area. Rarely, the joint may lock. Some children may limp due to damage of the involved joints of the lower limbs. If left untreated, the joint will develop degenerative arthritis.
The cause of DEH is unknown. There is no evidence that hereditary factors play a role in the development of this disease. More research is necessary to determine the exact underlying cause(s) of this disorder. DEH is benign and there are no reports of malignant transformation of the cartilage abnormality.
DEH usually affects children between the ages of 1 and 15. Males are affected more often than females. The incidence of DEH has been estimated at 1 in 1,000,000 individuals in the general population. However, some authors consider that the incidence is probably higher because some patients may be misdiagnosed with other conditions.
The diagnosis of DEH is made based on the child’s history and the evaluation of imaging studies which include plain radiographs (X-rays), computed tomography (CT) and particularly magnetic resonance imaging (MRI). If possible, the expert knowledge of a pediatric or skeletal radiologist is very important for the diagnosis of this disorder. In early childhood, as the disease consists mainly of cartilage, initial radiographs of the joint may appear normal or show minimal changes. As the child grows older, there is progression of the disease and the cartilage mass undergoes bone formation (osteocartilaginous mass) and will be recognized on radiographs. MRI is the best technique to demonstrate the extent of epiphyseal and joint involvement of the lesion. MRI can also establish the diagnosis of DEH at an early stage of the disease.
Once the diagnosis of DEH is made, other sites of involvement at initial presentation should be considered, and a radiographic skeletal survey is indicated. Clinical surveillance until puberty is also recommended as new lesions may appear later on.
The treatment of DEH is essentially surgical removal of the osteocartilaginous lesion, usually by a pediatric orthopedic surgeon. Some authors recommend conservative treatment in early asymptomatic lesions, and surgery when the lesion is painful and is associated with joint abnormalities. Others proposed early resection, even in asymptomatic children, in order to prevent later joint complications. During surgery, any damage of the pre-existing cartilage should be avoided. The presence in the MRI of a cleavage or separation between the mass and the normal cartilage may facilitate the removal of the lesion by the surgeon. Recurrence is unlikely, but has been reported. Some children with incomplete resections may do well and do not require additional surgery.
There are recent medical publications describing resection of DEH lesions by using arthroscopic surgery. Although experience with this technique is limited, it should be considered for the treatment of intra-articular lesions.
In some cases of DEH, other types of treatment may be necessary according to the location, size of the lesion and the duration of the disease.
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Contact for additional information about dysplasia epiphysealis hemimelica:
Dr. German C. Steiner
400 E 56th St. Apt 7N
New York, NY 10022
e-mail: [email protected]
Weinstein SL and Flynn JM. Lovell and Winter’s Pediatric Orthopaedics, 7th ed. Wolters Kluwer Health; Lippincott Williams & Wilkins. Philadelphia, PA. 2013.
Moon CN, Femino JD, Skaggs DL. Dysplasia Epiphysealis Hemimelica. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:186.
Mammoto T and Hirano A. Arthroscopic treatment of intra-articular dysplasia epiphysealis hemimelica of the knee. SAGE Open Med Case Rep. 2018: 6: 2050313×18790166.
Calderaro C, Iorio C, Turturro F, Morelli F, Labianca L, et al. Arthroscopic treatment of 2 consecutive cases of Dysplasia Epiphysealis Hemimelica of the ankle: A 5-year follow-up report. Case Rep Orthop. 2017: 3175765.
Gokkus K, Atmaca H, Sagtas E, Saylik M, Aydin AT. Trevor’s disease: up-to date review of the literature with case series. J Pediatr Orthop. B 2017; 26: 532-545.
Stevens J, Welting TJM, Witlox AM, van Rhijn LW, Staal HM. Dysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas. J Child Orthop. 2017; 11:160-68.
Bosch C, Assi C, Louahem D, Alkar F, et al: Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. Orthopaedics & Traumatology; Surgery & Research 2014;100:941-946.
Tyler PA, Rajeswaran G, Saifuddin A. Imaging of Dysplasia epiphysealis hemimelica (Trevor’ disease) Clin Radiol. 2013; 68:415-421.
Struijs PAA, Kerkhoffs GM, Besselaar PP. Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients. J Foot Ankle Surg. 2012; 51:620-626.
Doura-Khomsi W, Louati H, Mormech Y, Saied W, Bouchoucha S et al: Dysplasia epiphysealis hemimelica: a report of four cases. Foot Ankle Surg. 2011; 17:37-43.
Bahk, WJ, Lee, HY, Kang, YK, Park, JM, Chun, KA, Chung, YG. Dysplasia epiphysealis hemimelica: radiographic and magnetic resonance imaging features and clinical outcome of complete and incomplete resection. Skeletal Radiol. 2010; 39:85-90.
Vogel T, Skuban T, Kirchhoff C, Baur-Melnyk A, et al: Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature. Eur J Med Res. 2009; 14:272-276.
Glick R, Khaldi L, Ptaszynski K, Steiner GC. Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. Hum Pathol. 2007;38:1265-1272.
Rosero VM, Kiss S, Terebessy T, Kollo K, Szoke G. Dysplasia epiphysealis hemimelica (Trevor’s disease). 7 of our own cases and a review of the literature. Acta Orthop. 2007;78:856-861.
Smith EL, Raney EM, Matzkin EG, Fillman RR, Yandow SM. Trevor’s disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. J Pediatr Orthop. B 2007;16:297-302.
Azouz EM, Slomic AM, Marton D, Rigault P and Finidori G. The variable manifestations of dysplasia epiphysealis hemimelica. Pediatr Radiolol. 1985;15:44-49.
Kettelkamp DB, Campbell CJ, and Bonfiglio M. Dysplasia Epiphysealis Hemimelica. A report of fifteen cases and review of the literature. J of Bone and Joint Surg. 1966.48A:746-765.
Synovial Chondromatosis. The American Academy of Orthopaedic Surgeons. December 2016. Available at http://orthoinfo.aaos.org/topic.cfm?topic=A00602 Accessed June 6, 2019.
Forsh DA and Bartelstein M. Dysplasia Epiphysealis Hemimelica. Medscape. Updated: Jun 07, 2018. Available at: http://emedicine.medscape.com/article/1257694-overview Accessed June 6, 2019.
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