Back to Search
Start Over
Buschke-Ollendorff syndrome: a novel case series and systematic review.
- Source :
-
British Journal of Dermatology . Apr2016, Vol. 174 Issue 4, p723-729. 7p. - Publication Year :
- 2016
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *SKIN
*HUMAN anatomy
*CUTANEOUS glands
*CUTICLE
*DERMATOGLYPHICS
*TISSUE wounds
Subjects
Details
- Language :
- English
- ISSN :
- 00070963
- Volume :
- 174
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- British Journal of Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 114817311
- Full Text :
- https://doi.org/10.1111/bjd.14366