Buschke-Ollendorf syndrome: A familial case

Buschke-Ollendorf syndrome is a rare autosomal dominant genodermatosis with full penetrance and variable expressivity. It is characterized by the presence of skin plaques and bone involvement with focal sclerotic patches in the epiphyseal and/or metaphyseal region of the long bones. In this report two members of the same family show a clinical picture suggestive for a diagnosis of Buschke-Ollendorf syndrome. Moreover, the main clinical features and different pathogenetical hypotheses about this syndrome are underlined.