Camurati-Engelmann disease--a rare cause of bone pain

Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant disease characterized by cortical thickening of the long-bone diaphyses accompanied by waddling gait, muscular weakness, hearing loss and chronic skeletal pain. We describe two cases of Camurati-Engelmann disease with differing presentations and review of the literature on several therapeutic options.

We present two cases of Camurati-Engelmann disease which responded to different medical therapies. Various diagnostic tests including radiographs, bone scan and genetic analysis are also described.

These cases responded differently to the treatment options and provide an insight into the variable response of the disease.

Diagnosis of this disorder is based on the clinical history, family history, clinical examination and imaging results. Recently genetic testing has become available for TGF-beta1 mutation Several therapeutic agents including biphosphonates, NSAIDs, prednisone and losartan have been described as therapeutic options with mixed results, as described in our cases.