Dysplasia epiphysealis hemimelica: a case report with novel pathophysiologic aspects

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.