Buschke–Ollendorff syndrome

Buschke–Ollendorff syndrome (BOS)is a rare genetic disorder associated with LEMD3. It is believed to be inherited in an autosomal dominant manner.[5] It is named for Abraham Buschke and Helene Ollendorff Curth,[6] who described it in a 45-year-old woman. Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females.[4]

Buschke–Ollendorff sign
Other namesDermatofibrosis lenticularis disseminata[1]
Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance.
SymptomsOsteopoikilosis, bone pain[2]
CausesMutations in the LEMD3 gene.[2]
Diagnostic methodX-ray, ultrasound[3]
TreatmentSurgery for hearing loss(or complications)[4]

Signs and symptoms
Osteopoikilosis

The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss[2][4]):

Pathogenesis

Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on chromosome 12.

Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:[7][8][9]

Bone Cells
  • LEMD3 (protein) referred also as MAN1, is an important protein in inner nuclear membrane.
  • LEMD3 gene gives instructions for producing protein that controls signaling for transforming growth factor-beta.
  • LEMD3 gene helps in the bone morphogenic protein pathway
  • Both of the above pathways help grow new bone cells
  • BMP and TGF-β pathways controls SMADs proteins, which then bind to DNA
  • LEMD3 once mutated, causes a reduction of the protein, which in turn causes excess of the above two pathways.

Diagnosis
Microscope with stained slide (histological specimen)
Histopathology of BOS.[10]

The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:[2][3]

Differential diagnosis

The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:[3]

Treatment

In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of aortic stenosis occur then surgery may be required. [4]

Treatment for hearing loss may also require surgical intervention.[4]

See also

References
  1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. "Buschke Ollendorff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 29 December 2017.
  3. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Buschke Ollendorff syndrome". www.orpha.net. Retrieved 29 December 2017.
  4. Lukasz Matusiak (2 July 2008), Dermatofibrosis Lenticularis (Buschke–Ollendorf Syndrome), eMedicine, retrieved 2009-09-05
  5. Online Mendelian Inheritance in Man (OMIM): 166700
  6. A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262.
  7. Reference, Genetics Home. "Buschke-Ollendorff syndrome". Genetics Home Reference. Retrieved 2018-05-13.
  8. Worman, Howard J.; Fong, Loren G.; Muchir, Antoine; Young, Stephen G. (July 2009). "Laminopathies and the long strange trip from basic cell biology to therapy". The Journal of Clinical Investigation. 119 (7): 1825–1836. doi:10.1172/JCI37679. ISSN 1558-8238. PMC 2701866. PMID 19587457. Retrieved 13 May 2018.
  9. Reference, Genetics Home. "LEMD3 gene". Genetics Home Reference. Retrieved 2018-05-13.
  10. Hosen, Mohammad J.; Lamoen, Anouck; De Paepe, Anne; Vanakker, Olivier M. (2012). "Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues". Scientifica. 2012: 1–15. doi:10.6064/2012/598262. ISSN 2090-908X. PMC 3820553. PMID 24278718.
    -Creative Commons Attribution 3.0 Unported license

Further reading
Classification
External resources
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.