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Buschke-Ollendorff syndrome


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Other Names:
Dermatoosteopoikilosis; BOS; Dermatofibrosis, disseminated with osteopoikilosis; Dermatoosteopoikilosis; BOS; Dermatofibrosis, disseminated with osteopoikilosis; Dermatofibrosis lenticularis disseminata with osteopoikilosis; Osteopathia condensans disseminata See More
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases

Summary Summary


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Buschke-Ollendorff syndrome (BOS) affects the skin and bones causing skin lesions and spots on the bones. The skin lesions are due to abnormalities in different types of connective tissue. The bone spots are painless areas of increased bone density seen on X-ray. People with BOS may have only skin, only bone or both skin and bone involvement. Rarely, BOS causes melorheostosis, which results in abnormal bone growth and can lead to bone pain and abnormally flexed joints. Symptoms of BOS usually start in childhood. The skin lesions can increase with age, but they do not cause other symptoms. BOS is caused by variations in the LEMD3 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on clinical examination, imaging studies, and may be confirmed by the results of genetic testing. Treatment of BOS is focused on managing the symptoms. Many people with BOS have no symptoms or pain and do not require any treatment.[1][2][3] 
Last updated: 10/1/2020

Symptoms Symptoms


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The following list includes the most common signs and symptoms in people with Buschke-Ollendorff syndrome (BOS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

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 contractures, and abnormal bone growth. Other rare complications of BOS include spinal stenosis, hearing loss, and short stature. The first signs of BOS are the skin lesions which can be present at birth but usually occur in childhood. By adulthood, most people with BOS will have osteopoikilosis. Osteopoikilosis is painless and often found by accident. Symptoms of BOS are very different from person to person, even within the same family.[1][2]
Last updated: 10/1/2020

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.

Showing of 37 |
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 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Cause Cause


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Buschke-Ollendorff syndrome is caused by the LEMD3 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[4]
Last updated: 10/1/2020

Inheritance Inheritance


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Buschke-Ollendorff syndrome (BOS) is inherited in an autosomal dominant pattern.[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo) and there is no history of this condition in the family.
  
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.

Last updated: 10/1/2020

Diagnosis Diagnosis


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Buschke-Ollendorf syndrome is diagnosed based on the symptoms, clinical examination, imaging studies, and the results of genetic testing.[1] A skin biopsy may be performed to remove a piece of skin to examine under the microscope. Diagnosing Buschke-Ollendorff syndrome is important to prevent the skin and bone findings from being mistaken for cancerous.
Last updated: 10/1/2020

Testing Resources

  • Genetic Testing Registry (GTR)
    Website: https://www.ncbi.nlm.nih.gov/gtr/

Treatment Treatment


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Treatment for Buschke-Ollendorff syndrome is focused on managing the symptoms. Many people with BOS have no symptoms and do not need treatment. Surgery may help with bone growth abnormalities.[1][5]

Specialists involved in the care of someone with Buschke-Ollendorff syndrome may include:
  • Dermatologist
  • Orthopedist
Last updated: 10/1/2020

Statistics Statistics


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It has been estimated that about one in 20,000 people has Buschke-Ollendorff syndrome. This may be an underestimate because this condition doesn't cause pain or other symptoms and may be underdiagnosed.[1][2]
Last updated: 10/1/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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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.

Learn More Learn More


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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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. 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.
  2. 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.
  3. 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.
  4. BUSCHKE-OLLENDORFF SYNDROME; BOS. Online Mendelian Inheritance in Man. Updated June 22, 2020; https://omim.org/entry/166700.
  5. 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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