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Disease Profile
Buschke-Ollendorff syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
All ages
ICD-10
Q78.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Dermatoosteopoikilosis; BOS; Dermatofibrosis, disseminated with osteopoikilosis;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases
Summary
Buschke-Ollendorff
Symptoms
Signs and symptoms of Buschke-Ollendorff syndrome may include:[1][2]
- Yellow or skin-colored bumps on or under the skin
- Areas of thick skin
- Spots on the bones due to increased bone density (osteopoikilosis)
- Abnormal bone growth (melorheostosis)
Melorheostosis is a rare finding in BOS that can cause bone pain, joint
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
100% of people have these symptoms | ||
Connective |
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 |
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 |
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 |
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 | ||
0001363 | ||
Cutaneous finger |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 |
Diagnosis
Treatment
Specialists involved in the care of someone with Buschke-Ollendorff syndrome may include:
Dermatologist Orthopedist
Related diseases
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
|
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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.
|
Learn more
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.
References
- 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. Br J Dermatol. Apr 2016; 174(4):723-9. https://pubmed.ncbi.nlm.nih.gov/26708699.
- Diotallevi F, Simonetti O, Radi G, artina E, Paolinelli M, Sapigni C, Guanciarossa F, Bianchelli T, Brancorsini D, Offidani A. Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease. Acta Dermatovenerol Alp Pannonica Adriat. Mar 2020; 29(1):31-33. https://pubmed.ncbi.nlm.nih.gov/32206820.
- Xu Z, Yang C, Xue R. Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition. J Cutan Pathol. Jun 9, 2020; doi: 10.1111/cup.13771:https://pubmed.ncbi.nlm.nih.gov/32519343.
- BUSCHKE-OLLENDORFF SYNDROME; BOS. Online Mendelian Inheritance in Man. Updated June 22, 2020; https://omim.org/entry/166700.
- Brodbeck M, Yousif Q, Diener PA, Zweier M, Gruenert J. The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. BMC Res Notes. Jun 7, 2016; 9:294. https://pubmed.ncbi.nlm.nih.gov/27267960.
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