Purpose: To present a retrospective overview of the clinical and radiological features of Camurati-Engelmann disease (CED) in a large family with genetically proven CED.
Material and methods: Clinical features and imaging studies were available in 8 affected patients out of a large Jewish-Iraqi family with 21 affected members in four generations. The patients' ages ranged between 7 and 44 years.
Results and conclusions: The most frequent symptoms were pain and muscle weakness accompanied by waddling gait. Two patients were asymptomatic. Radiologically, the disease can be classified as a craniotubular hyperostosis. Typically, fusiform thickening of the diaphyseal portions of the long bones was seen in all 8 patients, but in 1 patient, metaphyseal involvement was observed as well. Radioclinical abnormalities were most often detected before the age of 30, and were usually more extensive at older age. Radiological abnormalities may precede the clinical signs. Concomitant broadening of the diaphyses of long bones and narrowing of the medullary canal suggest that both an excessive periosteal apposition of bone and a defective resorption of bone at the endosteal side of the long bones exist.