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Dysplasia Epiphysealis Hemimelica Workup

  • Author: David A Forsh, MD; Chief Editor: Harris Gellman, MD  more...
 
Updated: May 25, 2016
 

Imaging Studies

Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, typically is well demonstrated on plain radiography; however, computed tomography (CT) or magnetic resonance imaging (MRI) may provide additional anatomic detail.[28]

Plain radiography may reveal early focal calcification of the affected site, with later appearance of an irregular bony enlargement that becomes fused to the affected epiphysis.[31] (See the images below.)

Lateral view of left foot. Medial ankle and subtal Lateral view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Anteroposterior view of left foot. Medial ankle an Anteroposterior view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Oblique view of left foot. Medial ankle and subtal Oblique view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Anteroposterior view of left ankle of 12-year-old Anteroposterior view of left ankle of 12-year-old boy. Medial ankle and subtalar joints and first metatarsophalangeal joints have large epiphyseal osteocartilaginous growths causing significant anatomic changes and clinical symptoms. Large lesion at first metatarsophalangeal joint required excision.
Anteroposterior view of left ankle of 12-year-old Anteroposterior view of left ankle of 12-year-old boy. Medial ankle and subtalar joints and first metatarsophalangeal joints have large epiphyseal osteocartilaginous growths causing significant anatomic changes and clinical symptoms. Large lesion at first metatarsophalangeal joint required excision.
Three-dimensional reconstruction images of left fo Three-dimensional reconstruction images of left foot (seen in radiographs of 12-year-old boy's foot) better demonstrate numerous epiphyseal abnormalities, especially at lateral tibial-talar and first metatarsal-phalangeal joints. Entire subtalar joint is also involved. Smaller irregularities are seen in nearly all epiphyses of foot.
Three-dimensional reconstruction images of left fo Three-dimensional reconstruction images of left foot (seen in radiographs of 12-year-old boy's foot) better demonstrate numerous epiphyseal abnormalities, especially at lateral tibial-talar and first metatarsal-phalangeal joints. Entire subtalar joint is also involved. Smaller irregularities are seen in nearly all epiphyses of foot.

CT can assist in defining the anatomic relation between the mass and its parent bone, and it is also useful for evaluating the condition of the articular cartilage and soft tissue.[32]

MRI depicts the unossified cartilaginous mass in great detail, as well as the status of the articular cartilage, and it helps differentiate abnormal epiphyseal growth from the main epiphysis.[11, 13, 28, 31, 33]

Double-contrast arthrography can assist in delineating joint space deformity, the extent of a cartilaginous mass, and the joint dynamic, but it is an invasive diagnostic tool.

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Histologic Findings

Macroscopically, the bone enlargement caused by DEH is consistent with an exostosis and normal hyaline cartilage.

Microscopically, the histologic appearance of the lesion is that of a well-defined cartilage cap over projecting bone that is contiguous with the underlying normal bone and is indistinguishable from that of a benign osteochondroma. Whereas a typical osteochondroma arises from the metaphysis or diaphysis, DEH arises from the epiphysis.[1]  The basic pathologic process appears to be abnormal cartilage proliferation in an epiphysis with associated enchondral ossification before complete ossification. A cleavage area of cartilage is present between the ossification center in the lesion and that of the epiphysis.[2]

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Staging

Azouz et al classified DEH into the following clinical types[34] :

  • Localized DEH, which involves only one epiphysis
  • Classic DEH (most common), which affects more than one area in a single limb
  • Generalized DEH, which affects the whole lower limb, from the pelvis to the foot
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Contributor Information and Disclosures
Author

David A Forsh, MD Chief, Orthopedic Trauma Surgery, Assistant Professor, Department of Orthopedic Surgery, Icahn School of Medicine at Mount Sinai

David A Forsh, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Orthopaedic Trauma Association, AO North America

Disclosure: Nothing to disclose.

Coauthor(s)

Meredith Bartelstein, MD Resident Physician, Department of Orthopedic Surgery, Mount Sinai Hospital

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, Leonard M Miller School of Medicine, Clinical Professor, Surgery, Nova Southeastern 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, Arkansas Medical Society

Disclosure: Nothing to disclose.

Additional Contributors

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.

Dennis P Grogan, MD Clinical Professor (Retired), Department of Orthopedic Surgery, University of South Florida College of Medicine; Orthopedic Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Dennis P Grogan, MD is a member of the following medical societies: American Medical Association, American Orthopaedic Association, Scoliosis Research Society, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association

Disclosure: Nothing to disclose.

Acknowledgements

Khalid A Bakarman, MD, MB, BCh, SBIO Pediatric Orthopedic Consultant, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia

Disclosure: Nothing to disclose.

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.

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

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

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

  4. 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].

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

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

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

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

  9. 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 Aug. 38(8):1265-72. [Medline].

  10. 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].

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

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

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

  14. Struijs PA, 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 Sep. 51(5):620-6. [Medline].

  15. Gokkus K, Aydin AT, Uyan A, Cengiz M. Dysplasia epiphysealis hemimelica of the ankle joint: a case report. J Orthop Surg (Hong Kong). 2011 Aug. 19(2):254-6. [Medline].

  16. Douira-Khomsi W, Louati H, Mormech Y, Saied W, Bouchoucha S, Smida M, et al. Dysplasia epiphysealis hemimelica: a report of four cases. Foot Ankle Surg. 2011 Mar. 17(1):37-43. [Medline].

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

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

  19. 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 Jul. 16(4):297-302. [Medline].

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

  21. Gökkuş 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. 2016 Apr 14. [Medline].

  22. Baumfeld D, Pires R, Macedo B, Abreu-E-Silva G, Alves T, Raduan F, et al. Trevor Disease (Hemimelic Epiphyseal Displasia): 12-year Follow-up Case Report and Literature Review. Ann Med Health Sci Res. 2014 Mar. 4 (Suppl 1):S9-S13. [Medline].

  23. 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. 1966 Jun. 48(4):746-65; discussion 765-6. [Medline].

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

  25. Vogel T, Skuban T, Kirchhoff C, Baur-Melnyk A, Siegert S, Heimkes B. Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature. Eur J Med Res. 2009 Jun 18. 14(6):272-6. [Medline].

  26. Azzoni R. Dysplasia epiphysealis hemimelica of the talus. J Orthop Traumatol. 2009 Mar. 10(1):43-6. [Medline]. [Full Text].

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

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

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

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

  31. 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 Jan. 39(1):85-90. [Medline].

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

  33. Volders D, Vandevenne JE, Van de Casseye W. Trevor's disease and whole-body MRI. Eur J Radiol. 2010 Apr 7. [Medline].

  34. 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].

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

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

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

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

  39. Oberc A, Sulko J, Szydlowski M. Dysplasia epiphysealis hemimelica - diagnostics and treatment in pediatric patients. Pol Orthop Traumatol. 2014 Apr 14. 79:41-4. [Medline].

  40. 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].

  41. Bosch C, Assi C, Louahem D, Alkar F, Mazeau P, Delfour C, et al. Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. Orthop Traumatol Surg Res. 2014 Dec. 100(8):941-6. [Medline].

 
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Anteroposterior view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Oblique view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Lateral view of left foot. Medial ankle and subtalar joints are significantly involved with epiphyseal growth irregularities.
Anteroposterior view of left ankle of 12-year-old boy. Medial ankle and subtalar joints and first metatarsophalangeal joints have large epiphyseal osteocartilaginous growths causing significant anatomic changes and clinical symptoms. Large lesion at first metatarsophalangeal joint required excision.
Anteroposterior view of left ankle of 12-year-old boy. Medial ankle and subtalar joints and first metatarsophalangeal joints have large epiphyseal osteocartilaginous growths causing significant anatomic changes and clinical symptoms. Large lesion at first metatarsophalangeal joint required excision.
Lateral view of left foot of 12-year-old boy. Medial ankle and subtalar joints and first metatarsophalangeal joints have large epiphyseal osteocartilaginous growths causing significant anatomic changes and clinical symptoms. Large lesion at first metatarsophalangeal joint required excision.
Three-dimensional reconstruction images of left foot (seen in radiographs of 12-year-old boy's foot) better demonstrate numerous epiphyseal abnormalities, especially at lateral tibial-talar and first metatarsal-phalangeal joints. Entire subtalar joint is also involved. Smaller irregularities are seen in nearly all epiphyses of foot.
Three-dimensional reconstruction images of left foot (seen in radiographs of 12-year-old boy's foot) better demonstrate numerous epiphyseal abnormalities, especially at lateral tibial-talar and first metatarsal-phalangeal joints. Entire subtalar joint is also involved. Smaller irregularities are seen in nearly all epiphyses of foot.
 
 
 
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