Case Report: Dysplasia Epiphysealis Hemimelica

Abstract

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.

Osteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report

“…5,22,26,27 Hereditary multiple exostoses has also been called diaphyseal aclasis, multiple hereditary exostoses, and multiple osteochondromatoses. 12,18,28,29 Mutations of the genes exostosin-1 (EXT1) (8q23-q24) and exostosin-2 (EXT2) (11p11-p12) have associations with HME and malignant degeneration. 4,5,26,28,30 The EXT genes regulate chondrocyte maturation and differentiation.…”

Paediatric Orthopaedic Diagnosis

“…Children with abnormalities of the cartilage and bone growth such as dysplasia epiphysealis hemimelica (Perl et al 2009 ), enchondromatosis, and osteochondromatosis may develop angular deformities at the knee. Genu valgum may be seen in Down syndrome and some other rare syndromes (Herrera-Soto and Price 2008 ).…”

Ostéochondrodysplasies

“…Elle survient généralement de manière sporadique [88,208] . Un seul versant de l'épiphyse est habituellement concerné (le versant médial deux fois plus souvent que le versant latéral), d'où le terme « hémimélique » [211,243] . Un seul versant de l'épiphyse est habituellement concerné (le versant médial deux fois plus souvent que le versant latéral), d'où le terme « hémimélique » [211,243] .…”