Buschke-Ollendorff syndrome

Dr Henry Knipe and A.Prof Frank Gaillard et al.

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 BOS is believed to affect around 1 in 20,000 individuals 4.

  • cutaneous manifestations: small connective tissue nevi also called as 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.

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

  • 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

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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Article information

rID: 7194
Section: Syndromes
Tag: bones, skin
Synonyms or Alternate Spellings:
  • Dermatofibrosis lenticularis disseminata with osteopoikilosis
  • Disseminated dermatofibrosis lenticularis
  • Buschke-Ollendorff syndrome (BOS)

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