Buschke-Ollendorff syndrome (BOS), also known as disseminated dermatofibrosis lenticularis 2, comprises of osteopoikilosis associated with disseminated connective tissue and cutaneous yellowish nevi, predominantly on the extremities and trunk 1. Recent genetic work has linked this syndrome to both isolated osteopoikilosis and melorheostosis 1.
The exact prevalence is unknown but Buschke-Ollendorff syndrome is believed to affect around 1 in 20,000 individuals 4.
cutaneous manifestations: small connective tissue nevi also called dermatofibrosis lenticularis disseminata
- these mostly affects the torso and extremities and can be made of elastin or collagen fibers or may be entirely fibrous.
- they do not itch and are painless
- non-cutaneous manifestations:
It is caused by a loss‐of‐function mutation in LEMD3 at 12q14 (OMIM 607844). The exact mechanism by which LEMD3 causes lesions is not yet understood. This gene codes for the inner nuclear membrane protein, LEMD3, which interacts with both the BMP and TGF-beta signaling pathways 5.
Treatment and prognosis
- Surgical excision of the connective tissue nevi for cosmetic reasons
- Surgical treatment of deafness, if indicated, such as implants
- management of associated conditions (e.g. diabetes mellitus, aortic stenosis)
- a leading cause of mortality is the development of areas of bone density into osteosarcoma, chondrosarcoma or giant cell tumors
History and etymology
Buschke-Ollendorff syndrome was first described by:
- Helene Ollendorff Curth: German-American dermatologist (1899-1982), Ollendorf was her maiden name 2
- Abraham Buschke: German dermatologist (1868-1943) 3
- Hans Theodor Schreus: German dermatologist and radiologist (1892-1970) ref
- 1. Bansal A. The dripping candle wax sign. Radiology. 2008;246 (2): 638-40. doi:10.1148/radiol.2462050537 - Pubmed citation
- 2. Guzman AK, James WD. Helen Ollendorff Curth: A dermatologist's lasting legacy. (2017) International journal of women's dermatology. 3 (1 Suppl): S70-S74. doi:10.1016/j.ijwd.2017.02.015 - Pubmed
- 3. Steffen C. The men behind the eponym--Abraham Buschke and Ludwig Lowenstein: giant condyloma (Buschke-Loewenstein). (2006) The American Journal of dermatopathology. 28 (6): 526-36. doi:10.1097/01.dad.0000211528.87928.a8 - Pubmed
- 4. https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome (accessed: 16th April, 2019)
- 5. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1306 (accessed: 16th April, 2019)
- 6. https://www.dermnetnz.org/topics/buschke-ollendorff-syndrome/ (accessed: 16th April, 2019)
- 7. V. Pope, L. Dupuis, P. Kannu et-al. Buschke–Ollendorff syndrome: a novel case series and systematic review. (2016) British Journal of Dermatology. 174 (4): 723. doi:10.1111/bjd.14366 - Pubmed