Buschke-Ollendorff syndrome

Last revised by Arlene Campos on 8 May 2024

Buschke-Ollendorff syndrome (BOS), also known as disseminated dermatofibrosis lenticularis 2, comprises osteopoikilosis associated with disseminated connective tissue and cutaneous yellowish nevi, predominantly on the extremities and trunk 1. 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.

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 (c. 2019) . This gene codes for the inner nuclear membrane protein, LEMD3, which interacts with both the BMP and TGF-beta signaling pathways 5.

The two main radiographic entities that are seen with this condition are osteopoikilosis and melorheostosis ref.

  • surgical excision of the connective tissue nevi for cosmetic reasons ref

  • surgical treatment of deafness, if indicated, such as implants ref

  • management of associated conditions (e.g. diabetes mellitus, aortic stenosis) ref

  • a leading cause of mortality is the development of areas of bone density into osteosarcoma, chondrosarcoma or giant cell tumors ref

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

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