Síndrome de Camurati-Engelmann

Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is characterized by hyperostosis of the diaphyses of the long bones (tibiae, femora, humeri…) that appears gradually and can affect the metaphyses; the epiphyses, however, are characteristically spared. In addition, other bones, such as the skull, may be affected.

CED is a rare autosomal dominant genetic disorder. Penetrance is reduced and expressivity is variable. Over 200 patients of both genders and all races have been described.

CED is caused by a mutation in the gene encoding for transforming growth factor ß-1.

Typically, CED symptoms begin in childhood and usually consist of a waddling gait, bone pain in the lower limbs, muscular weakness and reduced subcutaneous fat. If the skull is affected, neurological symptoms can appear, the most common being hearing loss.

Diagnosis is based on clinical findings and typical radiographic changes (gradual and irregular thickening of the diaphysis of the long bones). Scintigraphy is also useful in diagnosis. Definitive diagnosis is provided by mutation analysis.

The main treatment for this disease consists of glucocorticoids. In the future, gene therapy may provide a cure for CED.