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Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature.
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PMID:  19541588     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Dysplasia epiphysealis hemimelica (DEH) or Trevor's Disease is a very rare disease with an estimated incidence of one in 1.000.000. The majority of cases reported affect the lower limb and only 25 case reports of 33 cases with affection of the upper limb have been published. Here we present a case of DEH affecting the distal ulnar epiphysis and the lunate in an eleven-year-old girl, a DEH location described extremely rarely before. We firstly do not only present clinical and radiological findings (plane radiographs, CT, MRI), but also the surgical approach and the histopathological results of DEH in this uncommon location. Although extremely rare, DEH should be considered also in non-typical locations.
Authors:
Tobias Vogel; T Skuban; C Kirchhoff; A Baur-Melnyk; S Siegert; B Heimkes
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of medical research     Volume:  14     ISSN:  0949-2321     ISO Abbreviation:  Eur. J. Med. Res.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-06-22     Completed Date:  2009-08-11     Revised Date:  2013-03-27    
Medline Journal Info:
Nlm Unique ID:  9517857     Medline TA:  Eur J Med Res     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  272-6     Citation Subset:  IM    
Affiliation:
Department of Orthopedic and Trauma Surgery, Ruhr-University, Bochum, Germany. t.vogel@klinikum-bochum.de
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MeSH Terms
Descriptor/Qualifier:
Bone Neoplasms / pathology*,  surgery
Child
Epiphyses / pathology
Female
Humans
Osteochondrodysplasias / pathology*,  physiopathology,  surgery
Osteochondroma / pathology*,  surgery
Range of Motion, Articular
Treatment Outcome
Ulna / pathology*,  radiography
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Journal Information
Journal ID (nlm-ta): Eur J Med Res
Journal ID (iso-abbrev): Eur. J. Med. Res
ISSN: 0949-2321
ISSN: 2047-783X
Publisher: BioMed Central
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Copyright ©2009 I. Holzapfel Publishers
Received Day: 16 Month: 6 Year: 2008
Accepted Day: 18 Month: 7 Year: 2008
collection publication date: Year: 2009
Electronic publication date: Day: 18 Month: 6 Year: 2009
Volume: 14 Issue: 6
First Page: 272 Last Page: 276
ID: 3352020
Publisher Id: 2047-783X-14-6-272
PubMed Id: 19541588
DOI: 10.1186/2047-783X-14-6-272

Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature
T Vogel1 Email: t.vogel@klinikum-bochum.de
T Skuban2
C Kirchhoff 3
A Baur-Melnyk4
S Siegert5
B Heimkes2
1Department of Orthopedic and Trauma Surgery, Ruhr-University, Bochum, Germany
2Department of Orthopedics, Ludwig-Maximilians-University, Munich, Germany
3Depertment of Sports Orthopedics, Technical University, Munich, Germany
4Department of Radiology, Ludwig-Maximilians-University, Munich, Germany
5Department of Pathology, Ludwig-Maximilians University, Munich, Germany

Introduction

Dysplasia epiphysealis hemimelica (DEH) or Trevor's Disease is an uncommon developmental abnormality in young children, characterized by unilateral eccentric overgrowth of an epiphysis. Although most cases of this rare condition are reported on the lower limb, up to date a total of 25 case reports of 33 cases with affection of the upper limb have been published. Reported here is a case of DEH affecting the distal epiphysis of the ulna. Clinical, radiological (plane radiographs, CT, MRI) and histological signs as well as operative treatment will be discussed.


Case report

An eleven-year-old girl was seen in November 2006 in our Department of Pediatric Orthopedics with a painful non-traumatic swelling of the ulnar aspect of the left wrist. Clinical examination revealed a bony tumor on the distal end of the left ulna without any signs of inflammation. Active range of motion was significantly reduced due to pain and passive range of motion was limited to five degrees ulna abduction and 20 degrees dorsal extension. Supination and pronation was limited to five and 10 degrees, respectively. Flexion and radial abduction were within normal ranges. There was no family history of bone dysplasia. Plane radiographs of the left wrist (ap and lateral view) showed a massive enlarged distal ulnar epiphysis, the metaphysis seemed to be unaffected (Figure 1). Furthermore it showed a dorsal subluxation of the ulna and irregularities of the lunate. The radial epiphysis as well as the other carpometacarpal bones appeared normal. The typical radiological picture, together with our clinical findings, led to the suspicion of DEH, although the appearance on the upper extremity is extremely rare and was never seen before in our facility. Because of the patients pain and the limitations of active as well as passive range of motion surgical intervention was indicated. For pre-operative planning computed tomography (CT) and magnetic resonance imaging (MRI) of the wrist was performed to define the anatomic relations. Computed tomography showed that the lesion was not limited to the distal ulna epiphysis, the lunate showed irregularities, too. The distal radio-ulnar joint was not affected (Figure 2). MRI revealed complete cartilage covering of the tumor and a joint effusion of the wrist. Furthermore it revealed that the triangular discus was stretched but seemed to be intact. It also confirmed the involvement of the lunate. Neither vessels nor the ulnar nerve was affected (Figure 3). A partial resection of the dysplasia was then performed using a dorsal approach to reduce tumor mass and to allow dorsal extension and ulnar abduction (Figure 4). Stabilizing elements like the dorsal radio-ulnar ligament or the ulnar collateral ligament were preserved, although they limited the resection. Intraoperatively, the outgrowth was found to be covered with glistening cartilage similar to that of a normal epiphysis, but the surface was irregular and knotty (Figure 5). After the resection, passive dorsal extension was 45° and ulnar abduction was 20°. Passive supination was possible up to 30° and pronation up to 20°. Microscopy of the preparation revealed a benign osteochondroma (2.7 × 1.5 × 1.0 cm) with multiple foci of enchondral ossification (Figure 6). At follow-up seven weeks after the resection the patient was very satisfied with the functional and cosmetic result, active motion was painless and the wrist was clinically stable. Passive motion of the wrist was 70°/0°/75° for extension/flexion and 20°/0°/20° for ulnar and radial abduction. Supination/pronation was possible 20°/0°/10°. The plane x-rays at follow-up are shown in Figure 7.


Discussion

Trevor's disease is an extremely rare condition with an estimated incidence of one in 1.000.000 [10,11,37]. The disorder was first described by Mouchet and Belot in 1926 and was called "tarsomegaly" referring to the fact that in the vast majority of the cases the lower limb and especially the foot is affected [25]. Up to now 33 cases (25 case reports) with upper limb involvement are published and DEH of the distal ulnar epiphysis is reported in only 6 cases (Table 1). We performed incomplete resection of the disorder to reduce pain and improve wrist motion in an eleven-year-old girl and present our experience and a review of the literature. The diagnosis of DEH is mainly radiological and plane x-rays (ap and lateral view) are helpful to recognize the disorder as limited to the epiphysis [7]. There may be generalized though irregular enlargement of the affected epiphysis or a number of separate centers of ossification can be seen. Furthermore, plane radiographs can show weather or not other bony structures are involved [9]. Clinical manifestations consist of pain, swelling, deformities and functional impairment [3,33,34]. Males are involved three times as often as females and most patients present between the age of nine month an 14 years [2]. Although there is no definite evidence of familial or hereditary transmission, Hensinger et al. described seven cases in 12 generations of one family [9,15]. The etiology remains unknown, although viral involvement has been suggested [29,35]. Malignant transformation has not been reported [21]. The epiphyseal dysplasias are inborn errors of epiphyseal development and are presumed to be caused by an abnormality of epiphyseal ossification [3]. The natural history of DEH is for the lesion to increase in size until skeletal maturity [20]. Most reported cases have multiple-site involvement in a single lower limb [2]. The most common sites in order are the distal femur, proximal tibia, talus, tarsal navicular and first cuneiform [12]. Our review of the English literature revealed 25 case reports and 33 cases involving the upper extremity (Table 1).

In general, the radial side of the carpus appears to be involved more often [7,9,21]. Including our case, only 7 patients with affection of the distal ulnar epiphysis are reported so far. Surgical treatment is indicated when the lesion causes pain, deformity or loss of function. But also cosmetic reasons should be considered. Resection, even if incomplete, has resulted in successful resolution of symptoms in both the lower and upper limbs without risk of recurrence of deformity and a low rate of degenerative changes [6,9]. Asymptomatic lesions may be treated nonoperatively [28]. In the patient reported here, pain, functional impairment and cosmetic aspects of the adolescent girl led to surgical treatment. Before the resection a CT-scan can help to identify the lesion's anatomic relations and MRI is described to allow better imaging of soft-tissue lesions, but there have been few reports of MRI in DEH [1,12,18]. Like in our case, histologic examination reveals tissue consistent with a benign osteochondroma [19]. The case of a three year old boy reported by Buckwalter in 1977 equals our presented case [5]. Buckwalter performed surgical removal of the mass and the abnormal enlargement did not recur, the surgical procedure itself is not described. At the age of 11, his patient had equal range of motion of the wrists and no problems with the use of the affected wrist and hand. He described the ossification of the lunate from two centers in his case as "perhaps the most curious feature" in his patient. But other authors like Cruz-Conde, Rao, Buckwalter or Takeuchi found also carpometacarpal involvement in their patients [5,7,28,32].


Conclusion

Dysplasia epiphysealis hemimelica is a very rare condition in children and adolescents and is mostly seen in the lower extremity. Affection of the wrist is very rare but there are cases in the literature. In most of those cases the carpal bones are affected. Involvement of the distal ulnar epiphysis is reported in 7 cases including our own case. Surgical resection may be indicated to relieve pain, improve function but also cosmetic reasons have to be considered. When resecting a tumor at the distal radio-ulnar joint stabilizing elements of the distal radio-ulnar joint as well as at the radio-carpal and carpo-ulnar joint have to be preserved.

Recurrence of the lesion seems to be very unlikely independent from the patient's age.


References
Abrahams TG,Whitten CG,Jones M,Dorfman HJ,Case report 632. Parosteal osteochondromatous hamartoma associated with Trevor's disease (dysplasia epiphysealis hemimelica)Skeletal RadiolYear: 199120147522000504
Azouz EM,Slomic AM,Marton D,Rigault P,Finidori G,The variable manifestations of dysplasia epiphysealis hemimelicaPediatr RadiolYear: 198515144910.1007/BF023878523969295
Beer TA,Chidgey LK,Wright TW,Dysplasia epiphysealis hemimelica of the carpusJ Surg Orthop AdvYear: 200514142715766442
Bigliani LU,Neer CS,Parisien M,Johnston AD,Dysplasia epiphysealis hemimelica of the scapula. A case reportJ Bone Joint Surg AmYear: 198062229247358760
Buckwalter JA,El-Khoury GY,Flatt AE,Dysplasia epiphysealis hemimelica of the ulnaClin Orthop Relat ResYear: 1978135368709949
Connor JM,Horan FT,Beighton P,Dysplasia epiphysialis hemimelica. A clinical and genetic studyJ Bone Joint Surg BrYear: 198365335046841410
Cruz-Conde R,Amaya S,Valdivia P,Hernandez M,Calvo M,Dysplasia epiphysealis hemimelicaJ Pediatr OrthopYear: 19844562596490890
Doyle M,Downey EF,Trevor's disease of the carpal navicular bone: Report of a caseJ Am Osteopath AssocYear: 19848379346469732
Fairbank TJ,Dysplasia epiphysialis hemimelica (tarsoephiphysial aclasis)J Bone Joint Surg BrYear: 195638-B12375713295331
Finidori G,Rigault P,Padovani JP,Naouri A,[Hemimelica epiphysialis dysplasia (author's transl)]Rev Chir Orthop Reparatrice Appar MotYear: 197864536774152945
Fulton H,Dysplasia epiphysialis hemimelicaAMA J Dis ChildYear: 19589532768113507860
Gerscovich EO,Greenspan A,Computed tomography in the diagnosis of dysplasia epiphysealis hemimelicaCan Assoc Radiol JYear: 198940631352598078
Geschickter CF,Copeland MM,Tumors of boneJB LippincottYear: 19493778
Heiple KG,Carpal osteochondromaJ Bone Joint Surg AmYear: 196143A8614
Hensinger RN,Cowell HR,Ramsey PL,Leopold RG,Familial dysplasia epiphysealis hemimelica, associated with chondromas and osteochondromas. Report of a kindred with variable presentationsJ Bone Joint Surg AmYear: 1974567151364433372
Hoeffel C,Hoeffel JC,Dysplasia epiphysealis hemimelica (Trevor's disease) of the distal radiusActa Orthop BelgYear: 19986433434
Hoeffel JC,Capron F,Jung JF,Bernard C,Dysplasia epiphysealis hemimelica of the ulnaEur J PediatrYear: 198614554503792397
Keret D,Spatz DK,Caro PA,Mason DE,Dysplasia epiphysealis hemimelica: diagnosis and treatmentJ Pediatr OrthopYear: 19921233657210.1097/01241398-199205000-000161573003
Kettelkamp DB,Campbell CJ,Bonfiglio M,Dysplasia epiphysealis hemimelica. A report of fifteen cases and a review of the literatureJ Bone Joint Surg AmYear: 19664847466515580741
Kuo RS,Bellemore MC,Monsell FP,Frawley K,Kozlowski K,Dysplasia epiphysealis hemimelica: clinical features and managementJ Pediatr OrthopYear: 199818454389661870
Lamesch AJ,Dysplasia epiphysealis hemimelica of the carpal bones. Report of a case and review of the literatureJ Bone Joint Surg AmYear: 19836533984006402513
Levi N,Ostgaard SE,Lund B,Dysplasia epiphysealis hemimelica (Trevor's disease) of the distal radiusActa Orthop BelgYear: 199864110469586260
Maylack FH,Manske PR,Strecker WB,Dysplasia epiphysealis hemimelica at the metacarpophalangeal jointJ Hand Surg [Am]Year: 19881369162010.1016/0363-5023(88)90270-5
Meyerding HW,ExostosisRadiologyYear: 19272828
Mouchet A,Belot J,La tarsomégalieJ Radiol ElectrolYear: 19261028993
Oestreich AE,Mitchell CS,Akeson JW,Both Trevor and Ollier disease limited to one upper extremitySkeletal RadiolYear: 2002314230410.1007/s00256-001-0473-911904692
Poli G,Verni E,Dysplasia epiphysealis hemimelica of the radiusChir Organi MovYear: 199580334148681686
Rao SB,Roy DR,Dysplasia epiphysealis hemimelica. Upper limb involvement with associated osteochondromaClin Orthop Relat ResYear: 199430710397924021
Rechnagel K,Dysplasia epiphysialis hemimelicaActa Orthop ScandYear: 1960292364614436769
Saxton HM,Wilkinson JA,Hemimelical skeletal dysplasiaJ Bone Joint Surg AmYear: 196446B60813
Stockley I,Smith TW,Dysplasia epiphysialis hemimelica an unusual case of macrodactyly of the thumbJ Hand Surg [Br]Year: 19851022495010.1016/0266-7681(85)90030-0
Takeuchi H,Ito K,Ogino T,Hasegawa T,Kitamura M,Ishii S,A case of osteocartilaginous mass involving the coronoid process of the ulna: solitary osteochondroma or dysplasia epiphysealis hemimelica?J Shoulder Elbow SurgYear: 2003125510310.1016/S1058-2746(02)86887-214564279
Tovarek J,Fait M,[Dysplasia epiphysealis hemimelica]Acta Chir Orthop Traumatol CechYear: 198148648177324723
Vanhoenacker F,Morlion J,De Schepper AM,Callewaert E,Dysplasia epiphysealis hemimelica of the scaphoid boneEur RadiolYear: 199995915710.1007/s00330005076610369990
Wheble VH,Connell MC,Dysplasia epiphysialis hemimelicaBr J RadiolYear: 195831371637910.1259/0007-1285-31-371-63713596588
Wiedemann HR,Mann M,von Kreudenstein PS,Dysplasia epiphysealis hemimelica--Trevor disease. Severe manifestations in a childEur J PediatrYear: 19811363311610.1007/BF004430007262103
Wynne-Davies R,Hall CM,Apley AG,Atlas of skeletl dysplasiasChurchill-Livingstone, EdinburghYear: 198553943

Figures

[Figure ID: F1]
Figure 1 

Tumor limited to the distal ulnar epiphysis, enlarged lunate (plane radiograph ap and lateral view).



[Figure ID: F2]
Figure 2 

Mushroom-shaped 2.5 × 2.1 cm sized tumor of the distal ulnar epiphysis with crescent-shaped cortical irregularities facing the radius as well as facing the carpus. Furthermore, cortical irregularities of the lunate. (computed tomography).



[Figure ID: F3]
Figure 3 

Ostechondral lesion of the distal ulnar epiphysis, effusion of the wrist, irregularities of the lunate. No bone bruise or osteonecrosis. Stretched but intact triangular discus. No vessel or nerve involvement. (MRI: left T1 wse; right: Flash 3D, cartilage sequence).



[Figure ID: F4]
Figure 4 

Intraoperative picture after exposé.



[Figure ID: F5]
Figure 5 

The mass after resection (scale in cm).



[Figure ID: F6]
Figure 6 

Histological examination revealed the picture of a benign osteochondroma. The asterix marks multiple centers of bone formation (hematoxylin and eosin; ×50).



[Figure ID: F7]
Figure 7 

Postoperative x-ray seven weeks after surgery (ap and lateral view).



Tables
[TableWrap ID: T1] Table 1 

Overview of the current literature of upper limb involvement of dysplasia epiphysealis hemimelica


Author No. of Cases Site
Meyerding 1927 [24] 4 Carpus
Geschickter 1949 [13] 1 Scaphoid
Fairbank 1956 [9] 2 Distal ulna, lunate, scaphoid, trapezium, 1st and 2nd metacarpal
Heiple 1961 [14] 1 Trapezium
Saxton 1964 [30] 1 Proximal humerus, capitellum, radial head, scaphoid, trapezium, 1st metacarpal
Wynne-Davies 1973 [37] 1 Carpus
Hensinger 1978 [15] 3 Carpus
Buckwalter 1978 [5] 1 Distal ulna, lunate
Bigliani 1980 [4] 1 Glenoid
Wiedemann 1981 [36] 1 Elbow, carpus
Lamesch 1983 [21] 1 Radius, scaphoid, trapezium
Doyle 1984 [8] 1 Scaphoid
Cruz-Conde 1984 [7] 1 Glenoid, coracoid, humerus, ulna, scaphoid, trapezium, lunate, hamate, capitate
Azouz 1984 [2] 1 Humerus
Stockley 1985 [31] 1 Thumb
Hoeffel 1986 [17] 1 Ulna
Maylack 1988 [23] 1 Metacarpus
Rao 1994 [28] 1 Elbow
Poli 1995 [27] 1 Radius
Levi 1998 [22] 1 Radius
Hoeffel 1998 [16] 1 Radius
Vanhoenacker 1999 [34] 1 Scaphoid
Oestreich 2002 [26] 1 Radial neck
Takeuchi 2003 [32] 1 Ulna
Beer 2005 [3] 3 Carpus
Total 33


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