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Genetic and Rare Diseases Information Center (GARD)

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Buschke Ollendorff syndrome


Other Names for this Disease
  • BOS
  • Buschke-Ollendorff syndrome
  • Dermatofibrosis lenticularis disseminata with osteopoikilosis
  • Dermatofibrosis, disseminated with osteopoikilosis
  • Dermatoosteopoikilosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray).[1][2] Some people with BOS have both skin and bone symptoms, while others have one or the other.  Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenital spinal stenosis, craniosynostosis, and nail patella syndrome.[1][3] Symptoms of BOS may begin at any age, but most often present before age 20.[3] BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS.[4]  BOS is inherited in an autosomal dominant fashion.[1] Affected members of the same family can have very different symptoms.
Last updated: 3/16/2011

References

  1. Cassandra L. Kniffin et al. BUSCHKE-OLLENDORFF SYNDROME; BOS. OMIM. June 2, 2010; http://www.ncbi.nlm.nih.gov/omim/166700. Accessed 3/16/2011.
  2. G. Mortier. Buschke-Ollendorff syndrome. Orphanet. January 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1306. Accessed 3/16/2011.
  3. Lygdas P, Ballas EG, Stathopoulos IP, Theologis T, Pistevos K, Pasparakis D. Buschke-Ollendorff syndrome accidentally diagnosed after a left ankle sprain. J Musculoskelet Neuronal Interact. 2014 Mar; 14(1):144-7. Accessed 3/19/2015.
  4. Buschke-Ollendorff syndrome. Genetics Home Reference. 2013 Oct; http://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome. Accessed 3/19/2015.
  5. Lukasz Matusiak, Grazyna Szybejko-Machaj, Jacek C Szepietowski. Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome). eMedicine. August 16, 2010; http://emedicine.medscape.com/article/1117654-overview. Accessed 3/16/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Buschke Ollendorff syndrome have been answered. See questions and answers . You can also submit a new question.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Buschke Ollendorff syndrome. This website is maintained by the National Library of Medicine.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases has a resource page, titled "What Are Heritable Disorders of Connective Tissue? Fast Facts: An Easy-to-Read Series of Publications for the Public." Click on the link to view the information page.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Buschke Ollendorff syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BOS
  • Buschke-Ollendorff syndrome
  • Dermatofibrosis lenticularis disseminata with osteopoikilosis
  • Dermatofibrosis, disseminated with osteopoikilosis
  • Dermatoosteopoikilosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.