Learn About Melorheostosis
Melorheostosis is a rare bone disease. It causes the abnormal growth of new bone tissue on the surface of existing bones. The new bone has a characteristic appearance on x-rays, often described as "flowing" or like dripping candle wax. The excess bone growth typically occurs on the bones in one arm or leg, although it can also affect the pelvis, breastbone (sternum), ribs, or other bones. (The term "melorheostosis" is derived from the Greek words "melos," which means limb; "rheos," which means flow; and "ostosis," which refers to bone formation.) The abnormal bone growth associated with melorheostosis is noncancerous (benign), and it does not spread from one bone to another.
Mutations in the MAP2K1 gene are estimated to cause about half of all cases of melorheostosis. The MAP2K1 gene provides instructions for making a protein called MEK1 protein kinase. This protein is active in many kinds of cells, including bone cells. It is part of a signaling pathway called RAS/MAPK. This signaling pathway helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), and cell movement (migration). RAS/MAPK signaling is critical for normal development, including the formation of bones.
Melorheostosis affects about 1 in 1 million people. Approximately 400 cases have been reported worldwide.
This condition is not inherited from a parent, and it cannot be passed down to children. It arises from somatic mutations in bone cells that occur during an individual's lifetime.
Atrium Health Primary Care Charlotte Medical Clinic
Erika Bono is a primary care provider, practicing in Internal Medicine in Charlotte, North Carolina. Dr. Bono is rated as an Advanced provider by MediFind in the treatment of Melorheostosis. Her top areas of expertise are Melorheostosis, Melorheostosis with Osteopoikilosis, Osteopenia, and Tick Paralysis. Dr. Bono is currently accepting new patients.
Midwest Center For Women's Healthcare
Karyn Grimm Herndon, MD, FACOG, has offices in Evanston and Glenview and is affiliated with NorthShore University HealthSystem (Evanston, Skokie and Glenbrook Hospitals). A Board Certified OB-GYN since 1994, Dr. Herndon is a Fellow of the American College of Obstetricians and Gynecologists. She attended the University of Florida's College of Medicine in Gainesville after completing her undergraduate studies at Brown University. Following her residency at Northwestern University Medical School, she stayed on the full-time faculty for several years. Dr. Herndon continues to teach and served as the Director of Resident Education for more than 10 years. She is honored to have been named one of Chicago's Best Doctors on several occasions. Dr. Herndon is rated as an Advanced provider by MediFind in the treatment of Melorheostosis. Her top areas of expertise are Melorheostosis, Melorheostosis with Osteopoikilosis, Osteopenia, and Endometrial Polyps.
Atrium Health Primary Care Charlotte Medical Clinic
Peter Justis is a primary care provider, practicing in Internal Medicine in Charlotte, North Carolina. Dr. Justis is rated as an Advanced provider by MediFind in the treatment of Melorheostosis. His top areas of expertise are Sitosterolemia, High Cholesterol, Maturity Onset Diabetes of the Young, and Folate Deficiency. Dr. Justis is currently accepting new patients.
Background: \- The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses.
Published Date: May 01, 2018
Published By: National Institutes of Health