MelorheostosisSymptoms, Doctors, Treatments, Advances & More
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.
Avera Medical Group Family Medicine — Marion Rd
Leah Prestbo is a primary care provider, practicing in Family Medicine in Sioux Falls, South Dakota. Dr. Prestbo is rated as a Distinguished provider by MediFind in the treatment of Melorheostosis. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Postmenopausal Osteoporosis, Osteoporosis, Osteopenia, and Melorheostosis. Dr. Prestbo is board certified in American Board Of Family Medicine. Dr. Prestbo is currently accepting new patients.
GW The Medical Faculty Associate
James Katz is a Rheumatologist practicing medicine in Washington, Washington, D.c.. Dr. Katz is rated as an Elite provider by MediFind in the treatment of Melorheostosis. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Melorheostosis, Relapsing Polychondritis, Polymyositis, and Myositis. Dr. Katz is currently accepting new patients.
University Of Vermont Medical Center
Edward Leib is a Rheumatologist practicing medicine in Burlington, Vermont. Dr. Leib is rated as a Distinguished provider by MediFind in the treatment of Melorheostosis. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Osteoporosis, Melorheostosis, Juvenile Primary Osteoporosis, and Postmenopausal Osteoporosis. Dr. Leib 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