pediatrics
Craniotubular Hyperostoses
Diaphyseal dysplasia (Camurati Engelmann disease)
This Autosomal Dominant is caused by mutations in the Diaphyseal dysplasia manifests during mid-childhood with muscular pain, weakness, and wasting, typically in the legs. These symptoms usually resolve by age 30 years. Hyperostoses affect the long bones and skull. Cranial nerve compression and elevated intracranial pressure occur occasionally. Some patients are severely handicapped; others are virtually asymptomatic. Diagnosis of diaphyseal dysplasia is suspected by the combination of muscular deficits and hyperostoses of the long bones and skull. Typically, plain x-rays are done. The predominant x-ray feature is marked thickening of the periosteal and medullary surfaces of the diaphyseal cortices of the long bones, but findings vary. Medullary canals and external bone contours are irregular. The extremities and axial skeleton usually are spared. Rarely, the skull is involved, with calvarial widening and basal sclerosis. Corticosteroids may help relieve bone pain and improve muscle strength. 