Buschke-Ollendorff syndrome - Rare Psychiatry News

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Disease Profile

Buschke-Ollendorff syndrome

US Estimated

Europe Estimated

Age of onset

All ages

ICD-10

Q78.8

Inheritance

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.

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.

X-linked
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;

Summary

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 LEMD3gene 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]

Symptoms

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]

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 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

Cause

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]

Diagnosis

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.

Testing Resources

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

Treatment

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

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
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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All ages

Q78.8

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.

X-linked 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)

Categories

Summary

Symptoms

Cause

Diagnosis

Testing Resources

Treatment

Related diseases

Learn more

Where to Start

In-Depth Information

References

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.