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Genetic and Rare Diseases Information Center (GARD)

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Buschke Ollendorff syndrome


Other Names for this Disease
  • BOS
  • Dermatofibrosis lenticularis disseminata with osteopoikilosis
  • Dermatofibrosis, disseminated with osteopoikilosis
  • Dermatoosteopoikilosis
  • Osteopathia condensans disseminata
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Your Question

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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Where can I find some more patient-friendly information about this condition?

Buschke Ollendorff syndrome is a rare disorder, and most of the current literature on the disorder is published in resources for medical professionals. However, you may find some resources that may be useful on this Web site by clicking here.
Last updated: 3/16/2011

What is Buschke Ollendorff syndrome?

Buschke Ollendorff syndrome (BOS) is a rare, hereditary disorder of the connective tissue. It is mainly characterized by benign, connective tissue nevi (also called hamartomas) in the skin, as well as osteopoikilosis ('spotted bones' caused by small, round spots of increased bone density).[1][2] In some individuals both the skin and bone are affected, while others may lack skin or bone manifestations. Some affected individuals have joint pain.[1] Symptoms may begin at any age.[2] BOS is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner.[1] Surgery to remove skin lesions is sometimes done for cosmetic reasons and in some patients, surgical treatment of deafness is possible.[3]
Last updated: 3/16/2011

What are the signs and symptoms of Buschke Ollendorff syndrome?

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.[3] 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.[3]

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.[3]
Last updated: 3/16/2011

How is Buschke Ollendorff syndrome inherited?

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.[3] 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.[4] 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

Is genetic testing available for Buschke Ollendorff syndrome?

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

How might Buschke Ollendorff syndrome be treated?

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.[3]
Last updated: 3/16/2011

References