Dysplasia Epiphysealis Hemimelica: Clinical Features and Management

Kuo, Richard; Bellemore, Michael; Monsell, F. P.; Frawley, Kieran; Kozłowski, K

doi:10.1097/01241398-199807000-00028

Cited by 64 publications

(89 citation statements)

References 16 publications

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“…Premature epiphyseal closure also may occur [22]. Computed tomography might provide additional information in defining the anatomic relations between the mass and bone in terms of cortical and medullar bone continuity [3,15]. The benefit of an additional arthroscopy is controversial [3], but arthroscopyguided biopsy, as performed in our patient, can support the clinical diagnosis [27].…”

Section: Discussionmentioning

confidence: 87%

Case Report: Dysplasia Epiphysealis Hemimelica

Perl

Brenner

Lippacher

et al. 2009

Clinical Orthopaedics &Amp; Related Research

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Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder. The underlying pathophysiology is largely unclear. Its diagnosis is based on clinical findings and may be difficult due to its low incidence and close relationship to other disorders such as osteochondroma. We describe a 13-year-old boy who presented with a unilateral lesion of the left medial femoral condyle and left ankle. In addition to standard diagnostic tools such as radiographs and MRI, arthroscopy-guided biopsy was performed; histologic/immunohistochemical findings from cartilage-bone specimens confirmed the diagnosis and provided novel information toward a disease mechanism. The cellular phenotype of clustered chondrocytes exhibited characteristics of chondroprogenitor cells and terminally differentiated cells, suggesting dysregulation of resident progenitor cells. No other surgery was performed and during a 2 year period, we observed spontaneous ossification of the lesion associated with decreased joint impairment. Immunohistochemical analysis of the lesion provided a more accurate diagnosis and may contribute to unraveling potential novel mechanisms involved in its pathogenesis.

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Section: Discussionmentioning

confidence: 87%

Case Report: Dysplasia Epiphysealis Hemimelica

Perl

Brenner

Lippacher

et al. 2009

Clinical Orthopaedics &Amp; Related Research

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show abstract

“…Le traitement de la DEH est envisagé en fonction des localisations et de l'extension lésionnelle. Si la plupart des auteurs recommandent la simple surveillance des lésions asymptomatiques [5,11,17,18], certains préconisent une chirurgie préventive précoce lorsque la localisation de la masse évoque un risque de déformation articulaire ulté-rieure [7]. La chirurgie à ciel ouvert ou par arthroscopie est indiquée en cas de douleurs persistantes, déformation axiale ou raideur articulaire [5,10].…”

Section: Discussionunclassified

La maladie de Trevor: à propos de deux nouvelles observations

et al. 2009

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“…La récidive de la déformation est fréquente. Les lésions asymptomatiques peuvent être traitées sans chirurgie dans la mesure où il n'existe pas de risque connu de dégénérescence maligne [12].…”

Section: Discussionunclassified