Melorheostosis Association Brochure

© Copyright 2001—2008  Melorheostosis Association.  All rights reserved.
Text Box: Facts in Brief What is melorheostosis? With an estimated incidence of 1:1,000,000, melorheostosis is a rare and progressive disorder characterized by thickening of the bone, also affecting the joints and overlying soft tissue and skin. Melorheostosis can result in severe functional limitation, extensive pain, soft tissue contractures (malformed and/or immobilized joints, tendons, ligaments), and limb, hand and/or foot deformity. The age of diagnosis is typically based on severity of onset and symptoms. How is melorheostosis diagnosed? X-Rays are the preferred diagnostic tool. X-rays often reveal a pattern of thickened bone that can look like dripping candle wax, particularly in adults. What areas of the body are affected? Melorheostosis usually is found in the arms and hands (upper quadrant) or legs and feet (lower quadrant). It can present in one extremity of either the upper or lower quadrant, can be bilateral upper or lower, or evidence itself in all quadrants. The disease can affect the pelvis, hips, sternum, ribs, and more rarely, the spine and skull. What is the cause of melorheostosis? The cause is currently unknown. Current research is moving us closer to being able to answer this question. Is surgery an option? Melorheostotic bone and soft tissue often do not react as unaffected tissue would to traditional surgical interventions. If surgery is being considered, the patient and surgeon may wish to consult the “Surgery” link on the Association website to view a recent medical paper (written by one of our Panel Members, Dr. Jeffrey King) containing important information on surgical management. What is the treatment and long-term prognosis? Treatments are limited and often fraught with concern for patients and doctors alike. No treatment option has been found to be fully effective, and what may be helpful to one may be ineffective or even detrimental to another. Treatment options include surgery, physical and occupational therapy, hydrotherapy, and medications to alter the bone remodeling process. As melorheostosis moves into a progressive state, pain management is one of the toughest challenges patients face. Medications available for pain include NSAIDs, steroids, narcotics, and occasionally, biphosphonates. These medications are sometimes helpful in the early stages of the chronic progression, however, less so for the severely afflicted. Due to its rarity and the lack of effective treatment options, long-term prognosis cannot be accurately predicted. Text Box: Mission Statement The Melorheostosis Association is a not-for-profit organization dedicated to finding the cause, treatments and cure for melorheostosis. Our focus is on promoting greater awareness and understanding of this progressive disease and its manifestations through education, research, communication and advocacy efforts on behalf of those affected by it as well as those dedicated to alleviating it. Text Box: X-Rays Demonstrating Melorheostosis in the Hip and Hand

wwwmelorheostosis.org
The image “file:///C:/Program%20Files/Qualcomm/Eudora/Attach/MAD%20056_edited.jpg” cannot be displayed, because it contains errors.Text Box: Melorheostosis Association The Melorheostosis Association, a 501(c)(3) charity, has held 5 conferences, funded research, initiated a tissue repository at the NIH, gathered the world’s largest database of patients and established a world renowned Medical Panel. Every member of our Board of Directors is either a patient or the parent of a patient. We are an all-volunteer association. Every dollar you donate goes directly to our mission to find the cause, treatments and a cure and is tax deductible. You can donate via PayPal on our website or mail a check directly to: Melorheostosis Association 410 East 50th Street New York, NY 10022 Please visit our website — www.melorheostosis.org — for additional information as well as a short video about melorheostosis which includes a statement by Medical Panel Chair, Dr. Frederick Kaplan. We welcome your interest and any questions you may have. Text Box: Board of Directors Jennifer Gordy, President Kathleen Harper, Chairman Lydia Zepeda, Treasurer Amanda Shapiro, Secretary Susan Hendricks, Fundraising/Publicity Chair Melorheostosis Association 410 East 50th Street New York, NY 10022 kathleen@melorheostosis.org www.melorheostosis.org © Copyright 2009  Melorheostosis Association. All rights reserved.

They are 1 in a 1,000,000
Text Box: Scientific/Medical Advisory Panel Dr. Fred Kaplan, M.D., Panel Chair Isaac & Rose Nassau Professor of Orthopedic Molecular Medicine Chief, Division of Metabolic Bone Diseases & Molecular Medicine Department of Orthopaedic Surgery, University of Pennsylvania Dr. Henry G. Bone, M.D. Director, Michigan Bone & Mineral Clinic Head, Endocrinology Division St. John Hospital & Medical Center Dr. Francis H. Glorieux, M.D., Ph.D. Professor of Surgery, Pediatrics & Human Genetics McGill University Director of Research, Shriners Hospital for Children, Montreal Dr. Jill Helms, PH.D., D.D.S. Associate Professor, Plastic and Reconstructive Surgery Stanford University Dr. Jeffrey C. King, M.D. Clinical Assistant Professor, Michigan State University Health Care Midwest, Hand & Elbow Surgery Dr. Peter Klein, M.D., Ph.D. Associate Professor of Medicine & Cell and Developmental Biology University of Pennsylvania Dr. Laura McCabe, Ph.D. Associate Professor, Department of Physiology Department of Radiology, College of Osteopathic Medicine Michigan State University Dr. Geert Mortier, M.D. Professor of Medicine, Department of Medical Genetics Ghent University Hospital, Belgium Dr. Vicki Rosen, Ph.D Professor and Chair, Developmental Biology Harvard University Dr. Eileen M. Shore, Ph.D. Associate Professor of Orthopaedic Surgery & Genetics University of Pennsylvania Dr. Ethel Siris, M.D. Director, Toni Stabile Center for the Prevention & Treatment of Osteoporosis, Columbia-Presbyterian Medical Center Metabolic Bone Diseases Program, Columbia University Dr. Andrew Weiland, M.D. Professor, Orthopaedic & Plastic Surgery Weill Medical College, Cornell University Dr. Michael Whyte, M.D. Medical-Scientific Director, Center for Metabolic Bone Disease & Molecular Research, Professor of Medicine, Pediatrics & Genetics Division of Bone & Mineral Diseases Washington Univ. School of Medicine Dr. Howard Worman, M.D. Associate Professor of Medicine Columbia University Dr. Michael Zasloff, M.D., Ph.D. Professor, Research & Translational Science Georgetown University Medical Center