• Disease Overview
  • Synonyms
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Diagnosis
  • Standard Therapies
  • Clinical Trials and Studies
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Dysplasia Epiphysealis Hemimelica

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Last updated: 8/15/2023
Years published: 1988, 1989, 2000, 2010, 2013, 2016, 2019, 2023


Acknowledgment

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.


Disease Overview

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a developmental bone disease of childhood. It is very rare and clinical experience with this condition is limited. It is extremely rare in adults. Most cases are diagnosed before 8 years of age. It is characterized by a benign, abnormal growth of cartilage arising most frequently from the pre-existing cartilage of the distal ends (epiphysis)of the long bones. The joints of the lower limbs are most frequently affected including the ankle, knee, hip joints and the foot bones. The upper limbs are less frequently affected. The abnormal cartilage produces an irregular mass with varying degrees of deformities of the bone and adjacent joints. 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 the classic form. The lesions are usually located on the same side of the limbs, mostly medial, and this is called hemimelia. 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.

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Synonyms

  • DEH
  • Trevor's disease
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Signs & Symptoms

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, mostly the medial side. Associated pain occurs at the beginning or 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 weakness in the involved area. Rarely, the joint may lock. Some children may limp due to damage of the involved joints of the lower extremities. If left untreated, the joint will develop degenerative arthritis.

A small number of children with DEH have, in addition to the symptoms described above, calcified structures within the joints, which are described as “loose bodies” and are recognized by radiographs and CT studies. They represent osteocartilaginous fragments of DEH tissue, originally located in the distal end of the long bones, which has spread out into the adjacent joint.

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Causes

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.

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Affected populations

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.

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Diagnosis

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 bone radiologist is very important for the diagnosis of this very rare disorder. In early childhood, as the disease consists mainly of growing 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 abnormal cartilage mass undergoes bone formation (osteocartilaginous mass) and will be recognized by radiographs and CT. MRI is the best technique to demonstrate the uncalcified cartilaginous component of the lesion and the extent of epiphyseal and joint involvement. 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 (radiographs of all bones) may be indicated. Clinical observation until puberty is also recommended as new lesions may appear later. The lesion of DEH grows until skeletal maturation with closure of the epiphyseal growth plate.

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Standard Therapies

Treatment

The treatment of DEH is essentially surgical removal of the osteocartilaginous mass, usually by a pediatric orthopedic surgeon. If the child is free of pain or other symptoms and shows no evidence of joint deformity or any other abnormality, conservative treatment with close follow up and observation may be indicated. In children with a history of pain, swelling, joint deformity and limited function, surgery is recommended. During surgical resection, any damage of the pre-existing cartilage should be avoided. The presence in the MRI of cleavage or separation between the abnormal tissue and the normal cartilage may facilitate the removal of the lesion by the surgeon. Recurrence is infrequent but has been reported. DEH is a benign condition and there is no evidence of malignant transformation. Some children with incomplete resections may do well and do not require additional surgery.

Children who present with loose bodies within the joints usually undergo arthroscopy (minimally invasive surgical procedure) in order to evaluate the conditions within the joint and also facilitate the removal of the loose bodies. If they are too large, the loose bodies are removed through a surgical incision.

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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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/`

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

Contact for additional information about dysplasia epiphysealis hemimelica:

Dr. German C. Steiner
400 E 56th St. Apt 7N
New York, NY 10022
646-675-6038 (Phone)
e-mail: germancsteiner@gmail.com

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References

TEXTBOOKS
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.
JOURNAL ARTICLES
Jeandel C, Aldugman T, Delfour C, et al. Dysplasia epiphysealis hemimelica presenting as multiple loose bodies: a case report. JBJS Case Connect. 2021;11(4):e21.00023. Published 2021 Oct 14. doi:10.2106/JBJS.CC.21.00023

Sato S, Chang SH, Kasai T, Maenohara Y, et al. Juvenile dysplasia epiphysealis hemimelica with multiple ankle free body. Hindawi. Case Reports in Orthopedics 2021; ID 5579684. https://doi.org/10.1155/2021/5579684

Gao F, Chen G, Wang R, Huang P, Wang J, Xu W. 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(1):167. Published 2020 Mar 14. doi:10.1186/s12891-020-3146-3

Degnan AJ and Ho-Fung VM. More than epiphyseal osteochondroma: updated understanding of imaging findings in DEH (Trevor’disease). Am J Roentgenology 2018; 211(4): 910-919.

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.

Suh, JH, Cho, KH. Case report of Imaging Analysis of Dysplasia Epiphysealis Hemimelica(Trevor’s disease). J Korean Soc Radiol. 2013; 69(2):149-152

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.

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(8):1265-1272. doi: 10.1016/j.humpath.2007.01.017

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.

INTERNET
Synovial Chondromatosis. The American Academy of Orthopaedic Surgeons. January 2022. Available at https://orthoinfo.aaos.org/topic.cfm?topic=A00602 Accessed August 10, 2023.

Forsh DA and Bartelstein M. Dysplasia Epiphysealis Hemimelica. Medscape. Updated: Dec 3, 2021. Available at: https://emedicine.medscape.com/article/1257694-overview Accessed August 10, 2023.

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