title: Buschke-Ollendorff syndrome: a novel case series and systematic review.
abstract: Buschke-Ollendorff syndrome (BOS) is a rare, often benign, autosomal skin disorder. BOS commonly presents with nontender connective tissue naevi and sclerotic bony lesions (osteopoikilosis [OPK]). Herein, we summarize the presenting features of BOS and potential associations by conducting a systematic review of the literature and summarizing a cohort seen at the Hospital for Sick Children (HSC), Toronto, Canada. PubMed was searched using the following terms: 'BOS'; 'dermatofibrosis lenticularis'; 'OPK'; 'LEMD3'; 'elastoma'; 'collagenoma'. Only case reports were included, without date or language restrictions. Cases were further narrowed to those where patients or their families had a combination of skin and bony lesions, or a positive genetic test. Data were summarized using frequencies. In total, 594 reports were discovered, of which 546 (92%) were excluded. The remaining 48 accounted for 164 cases. Skin lesions were noted in 24% of cases and bony lesions in 20%, while 54% of patients had both. In 1% of cases the diagnosis was made on genetic testing alone. A family history was noted in 92% of cases. All patients with spinal stenosis (2%) or shortened status (7%) had OPK. Six per cent of patients had neurological problems. However, 50% of the cohort from HSC had cognitive delays, and only cases from 2007 onwards reported cognitive delays (the prevalence was 17% among those cases). This review confirms the classical diagnostic features of BOS. In addition, it highlights a previously unreported association between a shortened stature and OPK, as well as a possible association with cognitive delays.
authors.affiliation: Department of Dermatology, Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: V
authors.initials: V
authors.lastname: Pope
authors.affiliation: Department of Genetics and Metabolics, Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: L
authors.initials: L
authors.lastname: Dupuis
authors.affiliation: Department of Genetics and Metabolics, Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Kannu
authors.affiliation: Department of Genetics and Metabolics, Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Mendoza-Londono
authors.affiliation: Department of Dermatology, Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Sajic
authors.affiliation: University Health Network and Mount Sinai Hospital, The Fred A. Litwin Family Centre in Genetic Medicine, Toronto, ON, Canada.|Centre for Addiction and Mental Health, Toronto, ON, Canada.|University of Toronto, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada.
authors.forename: J
authors.initials: J
authors.lastname: So
authors.affiliation: Department of Genetics and Metabolics, Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: G
authors.initials: G
authors.lastname: Yoon
authors.affiliation: Pediatrics Section of Dermatology, Hospital for Sick Children, Toronto, ON, Canada.|University of Toronto, Toronto, ON, Canada.
authors.forename: I
authors.initials: I
authors.lastname: Lara-Corrales
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010023:Osteopoikilosis / Q000150:complications / Q000175:diagnosis*; D012873:Skin Diseases, Genetic / Q000150:complications / Q000175:diagnosis*; D055815:Young Adult