Buschke–Ollendorff syndrome

Buschke–Ollendorff sign
Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance.
Symptoms Osteopoikilosis, bone pain[1]
Causes Mutations in the LEMD3 gene.[1]
Diagnostic method X-ray, ultrasound[2]
Treatment Surgery for hearing loss(or complications)[3]

Buschke–Ollendorff syndrome, also known as dermatofibrosis lenticularis disseminata,[4] 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 is equally found in both males and females.[3]

Signs and symptoms

Osteopoikilosis

The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss[1][3]):

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

Diagnosis

Microscope with stained slide(histological specimen)

The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:[1][2]

Differential diagnosis

The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:[2]

Treatment

In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of aortic stenosis occur then surgery may be required. Treatment for hearing loss may also require surgical intervention.[3]

See also

References

  1. 1 2 3 4 "Buschke Ollendorff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 29 December 2017.
  2. 1 2 3 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Buschke Ollendorff syndrome". www.orpha.net. Retrieved 29 December 2017.
  3. 1 2 3 4 Lukasz Matusiak (2 July 2008), Dermatofibrosis Lenticularis (Buschke–Ollendorf Syndrome), eMedicine, retrieved 2009-09-05
  4. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
  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. "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. Retrieved 13 May 2018.
  9. ↑ Reference, Genetics Home. "LEMD3 gene". Genetics Home Reference. Retrieved 2018-05-13.

Further reading

  • Pope, V.; Dupuis, L.; Kannu, P.; Mendoza-Londono, R.; Sajic, D.; So, J.; Yoon, G.; Lara-Corrales, I. "Buschke-Ollendorff syndrome: a novel case series and systematic review". The British Journal of Dermatology. 174 (4): 723–729. doi:10.1111/bjd.14366. ISSN 1365-2133. PMID 26708699.
  • Helander, Martti Kormano, Ilmari Lindgren ; with the collaboration of Inkeri; Lindgren, Ilmari (1999). Radiological findings in skin diseases and related conditions. Stuttgart: Thieme. ISBN 9783131161215. Retrieved 3 February 2018.
Classification
External resources
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