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Buschke Ollendorff syndrome

Other Names for this Disease
  • BOS
  • Dermatofibrosis lenticularis disseminata with osteopoikilosis
  • Dermatofibrosis, disseminated with osteopoikilosis
  • Dermatoosteopoikilosis
  • Osteopathia condensans disseminata
More Names
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Overview


Buschke Ollendorff syndrome (BOS) is a rare, hereditary disorder of the connective tissue. It is mainly characterized by benign, connective tissue nevi (also called hamartomas) in the skin, as well as osteopoikilosis ('spotted bones' caused by small, round spots of increased bone density).[1][2] In some individuals both the skin and bone are affected, while others may lack skin or bone manifestations. Some affected individuals have joint pain.[1] Symptoms may begin at any age.[2] BOS is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner.[1] Surgery to remove skin lesions is sometimes done for cosmetic reasons and in some patients, surgical treatment of deafness is possible.[3]


References

  1. Cassandra L. Kniffin et al. BUSCHKE-OLLENDORFF SYNDROME; BOS. OMIM. http://www.ncbi.nlm.nih.gov/omim/166700. Accessed March 16, 2011.
  2. G. Mortier. Buschke-Ollendorff syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1306. Accessed March 16, 2011.
  3. Lukasz Matusiak, Grazyna Szybejko-Machaj, Jacek C Szepietowski. Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome). eMedicine. http://emedicine.medscape.com/article/1117654-overview. Accessed March 16, 2011.
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General 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. Click on the link to view the 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.
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Buschke Ollendorff syndrome. Click on the link to go to OMIM and review these resources.