BUSCHKE-OLLENDORFF SYNDROME

The Buschke-Ollendorff syndrome (BOS) is a rare connective tissue diso rder inherited in an autosomal dominant pattern characterized by cutan eous lesions, dermatofibrosis lenticularis disseminata, and osteopoiki losis. We report a new case of this syndrome in a 66 year old man, int eresting by its association with a protein C deficiency, another rare genetically transmitted disease. Diagnosis of the BOS is difficult on the mere cutaneous lesions; if is therefore important to systematicall y practice bone X-rays in the presence of atypical pseudoxanthoma elas ticum, disseminated collagenoma or disseminated connective tissue or e lastic nevi. The radiologically detectable osteopoikilotic bone lesion s, evoking Paget's disease, easily sign the diagnosis. In our case, th e association of a protein C deficiency with the BOS may not be fortui tous because both the elastin and protein C genes are localized on chr omosome 2q.