Buschke Ollendorff Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Buschke Ollendorff Syndrome?
A primary care doctor usually manages this condition, and may refer a patient to a dermatologist, geneticist, or orthopedic doctor as needed. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Buschke Ollendorff syndrome is a rare genetic condition passed down in families. People with this condition have two main features: small, firm bumps under the skin and areas of unusually dense bone that show up on X-rays. Most people are otherwise healthy, and many never know they have it.
Symptoms
The skin bumps are small, round, and firm, and can be yellowish, skin-colored, or slightly darker. Doctors call them dermatofibrosis lenticularis. They often appear on the arms, legs, chest, or belly before puberty. The bone changes, called osteopoikilosis, are spots of thickened bone that look like small dots on an X-ray and usually do not hurt.
Causes and who gets it
This condition is caused by changes in a gene called LEMD3, which can be passed from a parent to a child or happen for the first time with no family history. When one parent has the gene change, each child has a chance of inheriting it.
How doctors diagnose it
Doctors often find this condition by accident when an X-ray shows the unusual bone spots, a pattern very recognizable to a radiologist. A doctor may also examine the skin bumps and ask about family history. A genetic blood test can confirm the gene change.
Treatment
Most people do not need treatment. The skin bumps are harmless, though some choose to have them removed for appearance. The bone spots do not need treatment either. If a person has bone or joint pain, a doctor will look for other causes and treat accordingly.
When to see a doctor
See a doctor if you notice firm bumps under your skin that do not go away, or bone or joint pain that lasts. Anyone with a family history may want to ask about genetic testing before planning a family.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance. They can often handle this condition directly, examining skin bumps, ordering X-rays, and coordinating genetic testing. A concierge doctor works similarly but usually costs more, and either would refer to a specialist if complications come up.
Common questions
Is Buschke Ollendorff syndrome dangerous?
No, it is considered a benign condition, which means it does not turn into cancer or damage organs. Most people live completely normal lives. The main issue for many patients is simply knowing they have it.
Do the skin bumps go away on their own?
The bumps usually stay once they appear, though they may change slowly over time. Some people barely notice them. Removal is possible if a bump bothers someone, but new ones can appear.
Can I pass this condition to my children?
Yes, it can be passed down through families. A genetic counselor, a trained expert in inherited conditions, can explain the chances and offer testing options. Many families find this helpful before or during a pregnancy.
Why did my X-ray show spots if I feel fine?
The bone spots in this condition usually cause no symptoms at all. They are often found by accident when an X-ray is taken for something else. A doctor can confirm the pattern and rule out other causes.
Sources
- NIH Genetic and Rare Diseases Information Center - Dermatofibrosis lenticularis disseminata
- MedlinePlus - Skin Conditions
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
