Epiphyseal dysplasia--symptoms and differential diagnostic aspects

Abstract

Children complaining of hip pain most likely suffer from Perthes' disease. Similar morphological changes are seen in the hereditary diseases of the epiphyseal dysplasias which have a prevalence of about 40 of 100 000 inhabitants. We now show the differentiation between bilateral Perthes' disease, epiphyseal dysplasia and skeletal disorders like mucopolysaccharidosis and pseudoachondroplasia. We describe the diseases of multiple epiphyseal dysplasia and spondyloepiphyseal dysplasia on the basis of two case reports. Furthermore, we discuss differential diagnostic aspects, therapeutic options and prognosis. Epiphyseal dysplasias are classified as osteochondral dysplasia. The characteristic feature of these heredopathies is short statue due to skeletal dysplasias at various sites. Multiple epiphyseal dysplasia is caused by an abnormality of enchondral ossification. A distinction is made between the severe Fairbank form, the milder Ribbing form and a mild but rather localised Meyer form. In addition to the femoral head, the spinal bodies can also be affected by the same enchondral ossification disorders and this is defined as spondyloepiphyseal dysplasia. The diagnosis of a Perthes' disease can be made from an X-ray of the hip, showing either an advanced necrosis of the femoral head or early signs of it. Typical radiological findings allow the differentiation to other skeletal dysplasias like epiphyseal dysplasia and metabolic disorders.