eMedicine Specialties > Orthopedic Surgery > Neoplasms

Dysplasia Epiphysealis Hemimelica

Author: Khalid A Bakarman, MD, MB, BCh, SBIO, Pediatric Orthopedic Consultant, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia
Coauthor(s): Robert Mervyn Letts, MD, FRCS(C), FACS, Former Chief, Department of Surgery, Division of Pediatric Orthopedics, Children's Hospital of Eastern Ontario, University of Ottawa; Consultant Pediatric Orthopedic Surgeon, Sheikh Khalifa Medical City, UAE
Contributor Information and Disclosures

Updated: May 12, 2008

Introduction

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, is a rare developmental disorder affecting the epiphyses in young children. The first report of DEH in the literature was by Mouchet and Belot in 1926, who described the condition as a tarsal bone disorder and used the term "tarsomegalie."1 In 1950, Trevor reviewed 10 cases of DEH and used the term "tarsoepiphyseal aclasis."2 In 1956, Fairbank reported 14 cases and coined the term "dysplasia epiphysealis hemimelica."3,4,5,6,7,8,9

DEH is thought to be a variant of osteochondroma arising within a joint.10,11,12

Problem

DEH is a benign disorder, and no cases of malignant transformation have been reported. The natural history of DEH is that of a lesion that continuously increases in size until skeletal maturity; therefore, the long-term prognosis for untreated lesions involving the weight-bearing surface of the joint, although unreported, is one of a progression toward pain and arthrosis.

Frequency

The incidence of DEH has been estimated at 1 case per million population. It is a rare disorder both in the United States and internationally.

No racial predilection is known to exist. DEH is most commonly found in males, with a male-to-female ratio of 3:1. It usually manifests in childhood and early adolescence.

Etiology

The etiology is unknown; the disease does not appear to be genetically transmitted.

Pathophysiology

The cause of DEH is unknown, but many theories exist. Connor et al suggested that the fundamental defect was an abnormality of the regulation of cartilage proliferation in the affected epiphysis, resulting in cartilaginous exostosis.13 Trevor considered DEH to be a congenital error in epiphyseal development that affects the limb buds during early fetal life; it was thought to involve an altered process of cell proliferation at the superficial zone of articular cartilage, allowing for persistent proliferation and production of a large cartilaginous mass.2 Fairbank suggested that the disorder was caused by a localized disturbance of the preaxial or postaxial apical cap of the limb bud in early fetal development.3,5

Presentation

DEH most commonly occurs around the knee, talus, and the tarsal navicular and the first cuneiform joints. Most patients present with painless swelling or a mass on one side of a joint, limitation of motion, angular deformity, concomitant regional muscle wasting, and, occasionally, recurrent locking of the joint. The medial side of the epiphysis is most commonly affected.4,14

The differential diagnoses include chondroblastoma, osteochondroma, and enchondroma.5,10,11,15

Indications

DEH should be treated if the lesion is causing deformity, pain, or interference with function. Most cases are treated surgically.16,17,18

Contraindications

Surgery is contraindicated if no medical symptoms or no mechanical block is present.

More on Dysplasia Epiphysealis Hemimelica

Overview: Dysplasia Epiphysealis Hemimelica
Workup: Dysplasia Epiphysealis Hemimelica
Treatment: Dysplasia Epiphysealis Hemimelica
Follow-up: Dysplasia Epiphysealis Hemimelica
Multimedia: Dysplasia Epiphysealis Hemimelica
References
[ CLOSE WINDOW ]

References

  1. Mouchet A, Belot J. Tarso megalie. J Radiol Electrol. 1926;10:289-93.

  2. Trevor D. Tarso-epiphysial aclasis; a congenital error of epiphysial development. J Bone Joint Surg Br. May 1950;32-B(2):204-13. [Medline].

  3. Fairbank TJ. Dysplasia epiphysealis hemimelica (taro-epiphyseal aclasis). J Bone Joint Surg Br. 1956;38:237-57. [Medline].

  4. Carlson DH, Wilkinson RH. Variability of unilateral epiphyseal dysplasia (dysplasia epiphysealis hemimelica). Radiology. Nov 1979;133(2):369-73. [Medline].

  5. 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. Aug 2007;38(8):1265-72. [Medline].

  6. Wenger DR, Adamczyk MJ. Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. Iowa Orthop J. 2005;25:60-5. [Medline].

  7. Kuo RS, Bellemore MC, Monsell FP, Frawley K, Kozlowski K. Dysplasia epiphysealis hemimelica: clinical features and management. J Pediatr Orthop. Jul-Aug 1998;18(4):543-8. [Medline].

  8. SAXTON HM, WILKINSON JA. HEMIMELIC SKELETAL DYSPLASIA. J Bone Joint Surg Br. Nov 1964;46:608-13. [Medline].

  9. Thacker MM, Azouz EM, Scully SP, Pitcher JD Jr, Temple HT. Dysplasia epiphysealis hemimelica of the tibial tubercle. Pediatr Radiol. Mar 2006;36(3):244-6. [Medline].

  10. Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH. Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics. Sep-Oct 2000;20(5):1407-34. [Medline].

  11. Oestreich AE, Mitchell CS, Akeson JW. Both Trevor and Ollier disease limited to one upper extremity. Skeletal Radiol. Apr 2002;31(4):230-4. [Medline].

  12. Takagi M, Kiyoshige Y, Ishikawa A, Ogino T. Multiple occurrence of osteochondromas in dysplasia epiphysealis hemimelica. Arch Orthop Trauma Surg. 2000;120(5-6):358-60. [Medline].

  13. Connor JM, Horan FT, Beighton P. Dysplasia epiphysialis hemimelica. A clinical and genetic study. J Bone Joint Surg Br. May 1983;65(3):350-4. [Medline].

  14. DeVine JH, Rooney RC, Carpenter C, Pitcher JD. Dysplasia epiphysealis hemimelica in an elderly patient. Am J Orthop. Mar 1997;26(3):223-5. [Medline].

  15. Vanhoenacker F, Morlion J, De Schepper AM, Callewaert E. Dysplasia epiphysealis hemimelica of the scaphoid bone. Eur Radiol. 1999;9(5):915-7. [Medline].

  16. Fasting OJ, Bjerkreim I. Dysplasia epiphysealis hemimelica. Acta Orthop Scand. Apr 1976;47(2):217-25. [Medline].

  17. Graves SC, Kuester DJ, Richardson EG. Dysplasia epiphysealis hemimelica (Trevor disease) presenting as peroneal spastic flatfoot deformity: a case report. Foot Ankle. Aug 1991;12(1):55-8. [Medline].

  18. De Smet L. Dysplasia epiphysealis hemimelica of the hand: two cases at the proximal interphalangeal joint. J Pediatr Orthop B. Sep 2004;13(5):323-5. [Medline].

  19. Gerscovich EO, Greenspan A. Computed tomography in the diagnosis of dysplasia epiphysealis hemimelica. Can Assoc Radiol J. Dec 1989;40(6):313-5. [Medline].

  20. Keret D, Spatz DK, Caro PA, Mason DE. Dysplasia epiphysealis hemimelica: diagnosis and treatment. J Pediatr Orthop. May-Jun 1992;12(3):365-72. [Medline].

  21. Azouz EM, Slomic AM, Marton D, Rigault P, Finidori G. The variable manifestations of dysplasia epiphysealis hemimelica. Pediatr Radiol. 1985;15(1):44-9. [Medline].

  22. Arkader A, Friedman JE, Moroz L, Dormans JP. Acetabular dysplasia with hip subluxation in Trevor's disease of the hip. Clin Orthop Relat Res. Apr 2007;457:247-52. [Medline].

  23. Maylack FH, Manske PR, Strecker WB. Dysplasia epiphysealis hemimelica at the metacarpophalangeal joint. J Hand Surg [Am]. Nov 1988;13(6):916-20. [Medline].

  24. Cruz-Conde R, Amaya S, Valdivia P, Hernández M, Calvo M. Dysplasia epiphysealis hemimelica. J Pediatr Orthop. Sep 1984;4(5):625-9. [Medline].

  25. Nishiyama M, Nii E, Akeda K, Uchida A. Limb-lengthening and angular correction for dysplasia epiphysealis hemimelica. J Orthop Sci. 2001;6(4):358-61. [Medline].

  26. 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. Jul 2007;16(4):297-302. [Medline].

  27. Tschauner C, Roth-Schiffl E, Mayer U. Early loss of hip containment in a child with dysplasia epiphysealis hemimelica. Clin Orthop Relat Res. Oct 2004;213-9. [Medline].

  28. Bakerman K, Letts M, Lawton L. Dysplasia epiphysealis hemimelica of the ankle in children. Can J Surg. Feb 2005;48(1):66-8. [Medline].

  29. Forsythe B, Lou J, States L, Guttenberg M, Dormans JP. Painless ankle mass in a 12-year-old boy. Clin Orthop Relat Res. May 2004;263-9. [Medline].

  30. Hensinger RN, Cowell HR, Ramsey PL, Leopold RG. Familial dysplasia epiphysealis hemimelica, associated with chondromas and osteochondromas. Report of a kindred with variable presentations. J Bone Joint Surg Am. Oct 1974;56(7):1513-6. [Medline].

  31. Hoppenfeld S, deBoer P. Surgical Exposures in Orthopedics: The Anatomic Approach. 2nd ed. Philadelphia, Pa: JB Lippincot; 1994.

  32. KEATS TE. Dysplasia epiphysialis hemimelica; (tarso-epiphyseal aclasis). Radiology. Apr 1957;68(4):558-63. [Medline].

  33. Kettelkamp DB, Campbell CJ, Bonfiglio M. Dysplasia epiphysealis hemimelica. A report of fifteen cases and a review of the literature. J Bone Joint Surg Am. Jun 1966;48(4):746-65; discussion 765-6. [Medline].

  34. Mendez AA, Keret D, MacEwen GD. Isolated dysplasia epiphysealis hemimelica of the hip joint. A case report. J Bone Joint Surg Am. Jul 1988;70(6):921-5. [Medline].

  35. Schmidt MB, Lomasney LM. Radiologic case study. Trevor disease: dysplasia epiphysealis hemimelica. Orthopedics. Jul 1994;17(7):645, 649-53. [Medline].

  36. Silverman FN. Dysplasia epiphysealis hemimelica. Semin Roentgenol. Oct 1989;24(4):246-58. [Medline].

  37. Skaggs DL, Moon CN, Kay RM, Peterson HA. Dysplasia epiphysealis hemimelica of the acetabulum. A report of two cases. J Bone Joint Surg Am. Mar 2000;82(3):409-14. [Medline].

  38. Tachdijan MO. Dysplasia epiphysealis hemimelica. In: Pediatric Orthopedics. 2nd ed. Philadelphia, Pa: WB Saunders Co; 1990:713-20.

  39. Teixeira AB, Sá de Camargo Etchebehere EC, Santos AO, Lima MC, Ramos CD, Camargo EE. Scintigraphic findings of dysplasia epiphysealis hemimelica: a case report. Clin Nucl Med. Feb 2001;26(2):162. [Medline].

  40. Wiedemann HR, Mann M, von Kreudenstein PS. Dysplasia epiphysealis hemimelica--Trevor disease. Severe manifestations in a child. Eur J Pediatr. Jul 1981;136(3):311-6. [Medline].

  41. Wynne-Davies R. Dysplasia epiphysealis hemimelica. In: Atlas of Skeletal Dysplasias. Edinburgh, Scotland: Churchill-Livingstone; 1985:539-43.

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

DEH, Trevor disease, Trevor's disease, tarsoepiphyseal aclasis, tarsomegalie, joint swelling, swollen joint, swollen knee, swollen ankle, talus, tarsal joint, navicular joint, cuneiform joint, articular osteochondroma

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Khalid A Bakarman, MD, MB, BCh, SBIO, Pediatric Orthopedic Consultant, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia
Disclosure: Nothing to disclose.

Coauthor(s)

Robert Mervyn Letts, MD, FRCS(C), FACS, Former Chief, Department of Surgery, Division of Pediatric Orthopedics, Children's Hospital of Eastern Ontario, University of Ottawa; Consultant Pediatric Orthopedic Surgeon, Sheikh Khalifa Medical City, UAE
Disclosure: Nothing to disclose.

Medical Editor

Howard A Chansky, MD, Associate Professor, Department of Orthopedics and Sports Medicine, University of Washington Medical Center
Howard A Chansky, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Sean P Scully, MD, PhD, Professor, Department of Orthopedics, University of Miami
Sean P Scully, MD, PhD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, International Society on Thrombosis and Haemostasis, and Society of Surgical Oncology
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Harris Gellman, MD, Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami School of Medicine
Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, and Arkansas Medical Society
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.