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Genetics Home Reference: your guide to understanding genetic conditions
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Buschke-Ollendorff syndrome

Reviewed October 2013

What is Buschke-Ollendorff syndrome?

Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis.

Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen.

Osteopoikilosis, which is from the Greek words for "spotted bones," is a skeletal abnormality characterized by small, round areas of increased bone density that appear as brighter spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems.

How common is Buschke-Ollendorff syndrome?

Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 people worldwide.

What genes are related to Buschke-Ollendorff syndrome?

Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-β) pathways. These signaling pathways regulate various cellular processes and are involved in the growth of cells, including new bone cells.

Mutations in the LEMD3 gene reduce the amount of functional LEMD3 protein that is produced. A shortage of this protein prevents it from controlling BMP and TGF-β signaling effectively, leading to increased signaling through both of these pathways. Studies suggest that the enhanced signaling increases the formation of bone tissue, resulting in areas of overly dense bone. It is unclear how it is related to the development of connective tissue nevi in people with Buschke-Ollendorff syndrome.

Related Gene(s)

Changes in this gene are associated with Buschke-Ollendorff syndrome.

  • LEMD3

How do people inherit Buschke-Ollendorff syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both connective tissue nevi and osteopoikilosis, some affected families include individuals who have the skin abnormalities alone or the bone abnormalities alone. When osteopoikilosis occurs without connective tissue nevi, the condition is often called isolated osteopoikilosis.

Where can I find information about diagnosis or management of Buschke-Ollendorff syndrome?

These resources address the diagnosis or management of Buschke-Ollendorff syndrome and may include treatment providers.

  • Genetic Testing Registry: Dermatofibrosis lenticularis disseminata (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0265514)

You might also find information on the diagnosis or management of Buschke-Ollendorff syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Buschke-Ollendorff syndrome?

You may find the following resources about Buschke-Ollendorff syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Buschke-Ollendorff syndrome?

  • dermatofibrosis disseminata lenticularis
  • dermatofibrosis, disseminated, with osteopoikilosis
  • dermatofibrosis lenticularis disseminata
  • dermatofibrosis lenticularis disseminata with osteopoikilosis
  • dermatoosteopoikilosis
  • osteopathia condensans disseminata

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Buschke-Ollendorff syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Buschke-Ollendorff syndrome?

autosomal ; autosomal dominant ; bone density ; cell ; collagen ; connective tissue ; elastic ; gene ; growth factor ; hereditary ; incidence ; inherited ; pelvis ; protein ; syndrome ; tissue ; x-rays

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Burger B, Hershkovitz D, Indelman M, Kovac M, Galambos J, Haeusermann P, Sprecher E, Itin PH. Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. Eur J Dermatol. 2010 Nov-Dec;20(6):693-7. doi: 10.1684/ejd.2010.1051. Epub 2010 Aug 24. (http://www.ncbi.nlm.nih.gov/pubmed/20732851?dopt=Abstract)
  • Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, Zhang Y. A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. Calcif Tissue Int. 2007 Aug;81(2):81-4. Epub 2007 Jul 11. (http://www.ncbi.nlm.nih.gov/pubmed/17622481?dopt=Abstract)
  • Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004 Nov;36(11):1213-8. Epub 2004 Oct 17. (http://www.ncbi.nlm.nih.gov/pubmed/15489854?dopt=Abstract)
  • Mumm S, Wenkert D, Zhang X, McAlister WH, Mier RJ, Whyte MP. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. J Bone Miner Res. 2007 Feb;22(2):243-50. (http://www.ncbi.nlm.nih.gov/pubmed/17087626?dopt=Abstract)
  • Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP. Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clin Genet. 2009 Jun;75(6):556-61. doi: 10.1111/j.1399-0004.2009.01177.x. Epub 2009 May 5. Erratum in: Clin Genet. 2011 Apr;79(4):401. (http://www.ncbi.nlm.nih.gov/pubmed/19438932?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2013
Published: July 28, 2014