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Buschke Ollendorff syndrome



Other Names:
Dermatoosteopoikilosis; BOS; Dermatofibrosis, disseminated with osteopoikilosis; Dermatoosteopoikilosis; BOS; Dermatofibrosis, disseminated with osteopoikilosis; Dermatofibrosis lenticularis disseminata with osteopoikilosis; Osteopathia condensans disseminata See More
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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

Buschke Ollendorff syndrome (BOS) is an association of connective tissue nevi and osteopoikilosis (small, round areas of increased bone density). The nevi are typically present on the trunk, in the sacrolumbar region (lower back and sacrum), and on the extremities (arms and legs). Occasionally, they may be on the head. The nevi are usually nontender and firm,[1] and are typically first noticeable as slightly elevated and flattened yellowish bumps, grouped together and forming plaques that may be several centimeters in diameter. The plaques are typically of irregular shape. They are usually numerous, painless, and develop over several years.[5] The osteopoikilosis typically occurs in the long bones, wrist, foot, ankle, pelvis, and scapula. They are harmless and usually found by chance when radiographs are taken for other purposes, although pain and limited joint mobility have been reported in some individuals.[2] In some individuals, only skin or bone manifestations may be present.[5]

Other signs and symptoms of BOS may include nasolacrimal duct obstruction, amblyopia ("lazy eye"), strabismus, benign lymphoid hyperplasia, hypopigmentation (abnormally light skin), and short stature. Congenital spinal stenosis (narrowing of the spine), disc herniation, clubfoot deformity, and nerve root compression may be present. Otosclerosis (abnormal growth of bone in the middle ear) with or without hearing loss may occur, but is rare.[5]
Last updated: 3/16/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Connective tissue nevi 0100898
Osteopoikilosis 0010739
80%-99% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Bone pain 0002653
Flat occiput 0005469
Generalized hypopigmentation
Fair skin
Pale pigmentation
[ more ]
0007513
Generalized osteosclerosis 0005789
Hyperostosis
Bone overgrowth
0100774
Papule 0200034
Short stature
Decreased body height
Small stature
[ more ]
0004322
Skeletal dysplasia 0002652
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
0001482
30%-79% of people have these symptoms
Flexion contracture
Flexed joint that cannot be straightened
0001371
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Scleroderma 0100324
5%-29% of people have these symptoms
Abnormal aortic morphology 0001679
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
0000164
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Atypical scarring of skin
Atypical scarring
0000987
Diffuse skin atrophy 0007488
Generalized limb muscle atrophy
Generalized muscle wasting
0009055
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Hemangioma
Strawberry mark
0001028
Hoarse voice
Hoarseness
Husky voice
[ more ]
0001609
Hypertension 0000822
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Myalgia
Muscle ache
Muscle pain
[ more ]
0003326
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
0002757
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ]
0000083
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
1%-4% of people have these symptoms
Craniosynostosis 0001363
Cutaneous finger syndactyly
Webbed fingers
Webbed skin of fingers
[ more ]
0010554
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Showing of 37 |
Last updated: 7/1/2020

Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner.[1] This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child  to not inherit the mutated gene.

It has been proposed that the inheritance of BOS shows incomplete penetrance.[5] Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a person’s family medical history and predict the risk of passing a genetic condition to future generations.[6] This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS.
Last updated: 6/6/2011

Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 3/16/2011

There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. Osteopoikilosis is typically asymptomatic, but about 15-20% of individuals experience pain and joint effusions (fluid build-up). Usually, no special restrictions in activity are required for individuals with BOS.[5]
Last updated: 3/16/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
These bone lesions should be differentiated from melorheostosis and sclerotic bone metastases. Osteopoikilosis also occurs as an isolated finding in individuals without a family history of BOS, as well as in association with other sclerosing dysplasias and as part of the 12q14 microdeletion syndrome (see these terms).
Visit the Orphanet disease page for more information.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

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  • I am a dermatologist and I have a patient requesting patient-friendly information on this condition. Can you provide this and direct me to some appropriate resources? See answer



  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.
  6. What are reduced penetrance and variable expressivity?. Genetics Home Reference. March 13, 2011; http://ghr.nlm.nih.gov/handbook/inheritance/penetranceexpressivity.