Buschke-Ollendorff syndrome

Last revised by Henry Knipe on 20 Jan 2024

Citation, DOI, disclosures and article data

Citation:

Gaillard F, Knipe H, Iqbal S, et al. Buschke-Ollendorff syndrome. Reference article, Radiopaedia.org (Accessed on 16 Apr 2024) https://doi.org/10.53347/rID-7194

DOI:

https://doi.org/10.53347/rID-7194

Permalink:

https://radiopaedia.org/articles/7194

rID:

7194

Article created:

16 Sep 2009, Frank Gaillard ◉ ◈

Disclosures:

At the time the article was created Frank Gaillard had no recorded disclosures.

View Frank Gaillard's current disclosures

Last revised:

20 Jan 2024, Henry Knipe ◉ ◈

Disclosures:

At the time the article was last revised Henry Knipe had the following disclosures:

Integral Diagnostics, Shareholder (ongoing)
Micro-X Ltd, Shareholder (ongoing)

These were assessed during peer review and were determined to not be relevant to the changes that were made.

View Henry Knipe's current disclosures

Revisions:

9 times, by 7 contributors - see full revision history and disclosures

Systems:

Musculoskeletal

Sections:

Syndromes

Tags:

skin, cases, case2, bones

Synonyms:

Buschke-Ollendorff syndrome (BOS)
Disseminated dermatofibrosis lenticularis
Dermatofibrosis lenticularis disseminata with osteopoikilosis

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. Recent genetic work has linked this syndrome to both isolated osteopoikilosis and melorheostosis ¹.

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
- osteopoikilosis and melorheostosis
- nasolacrimal duct obstruction
- amblyopia or strabismus
- benign lymphoid hyperplasia
- short stature
- diabetes mellitus
- aortic stenosis
- hearing impairment/deafness
- cognitive delays
- scoliosis
- spinal stenosis

Pathology

Etiology

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.

Radiographic features

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

Treatment and prognosis

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

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