title: Buschke-Ollendorff syndrome: sparing unnecessary investigations.
abstract: Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations.
authors.affiliation: tsurrenti@libero.it.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Surrenti
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
authors.forename: Laura Tanturri
authors.initials: LT
authors.lastname: De Horatio
authors.forename: Andrea
authors.initials: A
authors.lastname: Diociaiuti
authors.forename: Maya
authors.initials: M
authors.lastname: El Hachem
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004547:Elastic Tissue / Q000473:pathology*; D005260:Female; D006801:Humans; D033162:Incidental Findings; D008297:Male; D010023:Osteopoikilosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011379:Prognosis; D011859:Radiography; D035781:Siblings; D012873:Skin Diseases, Genetic / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology