Buschke Ollendorff syndrome

Alternate names

Dermatoosteopoikilosis; BOS; Dermatofibrosis, disseminated with osteopoikilosis; Dermatofibrosis lenticularis disseminata with osteopoikilosis; Osteopathia condensans disseminata

Definition

Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis.

Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body.

Epidemiology

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.

Cause

• Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene.
• This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-β) pathways.
• These signaling pathways regulate various cell functions and are involved in the growth of cells, including new bone cells.

Gene mutations

• Mutations in the LEMD3 gene reduce the amount of functional LEMD3 protein that is produced.
• A shortage of this protein increases signaling through the BMP and TGF-β pathways.
• Studies suggest that the enhanced signaling increases the formation of bone tissue, resulting in areas of overly dense bone or excess bone growth.
• It is unclear how the increased signaling is related to the development of connective tissue nevi in people with Buschke-Ollendorff syndrome.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both skin and bone abnormalities, some affected families include individuals who have the skin abnormalities alone or the bone abnormalities alone.

Signs and 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:

• 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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 100% of people have these symptoms

• Connective tissue nevi
• Osteopoikilosis

80%-99% of people have these symptoms

• Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
• Abnormality of the metaphysis(Abnormality of the wide portion of a long bone)
• Bone pain
• Flat occiput
• Generalized hypopigmentation(Fair skin)
• Generalized osteosclerosis
• Hyperostosis(Bone overgrowth)
• Papule
• Short stature(Decreased body height)
• Skeletal dysplasia
• Subcutaneous nodule(Firm lump under the skin)

30%-79% of people have these symptoms

• Flexion contracture(Flexed joint that cannot be straightened)
• Joint stiffness(Stiff joint)
• Scleroderma

5%-29% of people have these symptoms

• Abnormal aortic morphology
• Abnormality of the dentition(Abnormal dentition)
• Arthralgia(Joint pain)
• Arthritis(Joint inflammation)
• Atypical scarring of skin(Atypical scarring)
• Diffuse skin atrophy
• Generalized limb muscle atrophy(Generalized muscle wasting)
• Hearing impairment(Deafness)
• Hemangioma(Strawberry mark)
• Hoarse voice(Hoarseness)
• Hypertension
• Lymphedema(Swelling caused by excess lymph fluid under skin)
• Myalgia(Muscle ache)
• Palmoplantar keratoderma(Thickening of palms and soles)
• Recurrent fractures(Increased fracture rate)
• Renal insufficiency(Renal failure)
• Strabismus(Cross-eyed)
• Visual impairment(Impaired vision)

1%-4% of people have these symptoms

• Craniosynostosis
• Cutaneous finger syndactyly(Webbed fingers)

Diagnosis

• Buschke-Ollendorf syndrome is diagnosed based on the symptoms, clinical examination, imaging studies, and the results of genetic testing.
• 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.

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.

Specialists involved in the care of someone with Buschke-Ollendorff syndrome may include:

• Dermatologist
• Orthopedist

NIH genetic and rare disease info

• NIH info on Buschke Ollendorff syndrome

Buschke Ollendorff syndrome is a rare disease.

Buschke Ollendorff syndrome Resources
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