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.
State Of Franklin Healthcare Associates- Comprehensive Breast Center
Raymond Kohne is a Radiologist practicing medicine in Johnson City, Tennessee. Dr. Kohne is rated as a Distinguished provider by MediFind in the treatment of Melorheostosis. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Osteopenia, Melorheostosis with Osteopoikilosis, Melorheostosis, and Visceromegaly. Dr. Kohne is board certified in American Board Of Radiology.
Avera Medical Group Family Medicine — Marion Rd
Dr. Prestbo provides primary care at Avera Medical Group Family Health Center - Sioux Falls. 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 with Osteopoikilosis. Dr. Prestbo is board certified in American Board Of Family Medicine.
Bassett Health Center Andes
Susan Fiore is a primary care provider, practicing in Family Medicine in Andes, New York. Dr. Fiore is rated as a Distinguished provider by MediFind in the treatment of Melorheostosis. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Melorheostosis, Juvenile Primary Osteoporosis, Maturity Onset Diabetes of the Young, Familial Hypertension, and Craniectomy.
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