nding the cause, rare

treatment and cure for a

is the key to solving the

interested in fi

with scientific and clinical scholars for viable treatmentsis finally melorheostosis patients.

An international forum to unite patients

RESEARCH HOPE replacing the isolation once felt by all

mysteries associated with melorheostosis.

not-for-profit,

is a ABOUT YOUR GIFT... ABOUT YOUR IRS 501 (c)(3) status. tax exempt charity with tax exempt © Copyright 2006 Melorheostosis Association. Association. Melorheostosis 2006 © Copyright Check payable to the Melorheostosis Melorheostosis to the Check payable Association website our via Online with Paypal (www.melorheostosis.org) The Melorheostosis Association The Melorheostosis Association Your gift will make a difference! Your gift will • • 100% of all gifts are used to support our support our 100% of all gifts are used to and cure treatments finding the cause, mission: for melorheostosis. by: your donation Please make Address: 6611 Clayton209 Rd., Suite Email: Phone: Time Zone: [email protected] Website: melorheostosis.org GMT-6 MO 63117 St Louis, 1-314-727-0887

Lyn Pickel Mission Statement Board of Directors Executive Director Alice J. Albin, President Donna DeLuca, Director Donna DeLuca, Lydia Zepeda, Treasurer Michelle Lundie, Director Kathleen Harper, Website Editor The Melorheostosis Association is a not-for- Association is a The Melorheostosis the finding to dedicated profit organization cause, treatments and cure of melorheostosis. awareness greater on promoting is Our focus progressive disease this understanding of and education, through manifestations and its efforts and advocacy research, communication by it as well those affected on behalf of it. alleviating to those dedicated Scientific/Medical Advisory Panel What is Melorheostosis? As melorheostosis moves into a progressive state, pain management is one of the toughest challenges With an estimated incidence of 1:1,000,000, patients face. Medications available for pain include Dr. Fred Kaplan, M.D., Panel Chair melorheostosis is a rare and progressive disease Isaac & Rose Nassau Professor of Orthopedic Molecular Medicine NSAIDs, steroids, narcotics, and occasionally, Chief, Division of Metabolic Bone Diseases & Molecular Medicine characterized by (thickening) of cortical diphosphonates or biphosphonates. These medica- Department of Orthopaedic Surgery, University of Pennsylvania bone. Melorheostosis affects both bone and tions are sometimes helpful in the early stages of the soft tissue growth and development. While the Dr. Francis H. Glorieux, M.D., Ph.D. chronic progression, however, less so for the severely disorder is benign, it often results in severe functional Professor of Surgery, Pediatrics & Human Genetics afflicted. Occasionally patients may resort to amputa- McGill University limitation, extensive pain, soft tissue contractures tion in an attempt to alleviate the pain. Director of Research, Shriners Hospital for Children, Montreal (malformed and/or immobilized muscles, tendons, ligaments), and limb, hand or foot deformity. The Due to its rarity and the la Dr. Jill Helms, PH.D., D.D.S. Associate Professor, Plastic and Reconstructive Surgery age of diagnosis is typically based on severity of onset options, long-term prognosis cannot be accurately Stanford University and symptoms. predicted. ck of effective treatment Dr. Jeffrey C. King, M.D. How is melorheostosis diagnosed? X-Rays are Symptoms Clinical Assistant Professor, Michigan State University the preferred diagnostic tool. X-rays often reveal a Health Care Midwest, Hand & Elbow Surgery pattern of thickened bone (sclerotic bone lesions) that • Irregular bone growth including cortical thick- Dr. Peter Klein, M.D., Ph.D. looks like dripping candle wax. ening and ‘candle wax’ appearance Associate Professor of Medicine & Cell and Developmental Biology Limb length inequalities University of Pennsylvania What areas of the body are affected? Melorheo- • stosis usually is found in the arms and hands (upper • Joint swelling and fusion Dr. Laura McCabe, Ph.D. quadrant) or legs and feet (lower quadrant). It can • Soft tissue abnormalities including tendon and Associate Professor, Department of Physiology Department of Radiology, College of Osteopathic Medicine present in one extremity of either the upper or lower ligament shortening, absent or abnormal Michigan State University quadrant, can be bilateral upper or lower, or evidence muscles, calcification, contractures resulting in itself in all quadrants. The disease can also affect the malformed or immobilized joints Dr. Geert Mortier, M.D. pelvis, hips, sternum, ribs, and more rarely, the spine Professor of Medicine, Department of Medical Genetics • Range of motion limitations Ghent University Hospital, Belgium and skull. • Pain and stiffness Dr. Eileen M. Shore, Ph.D. What is the cause of melorheostosis? The cause • Sensitivity to cold Associate Professor of Orthopaedic Surgery & Genetics is currently unknown. It is believed the LEMD3 gene • Hyper-pigmentation of skin University of Pennsylvania (which is critical to bone formation) may play a role • Vascular abnormalities Dr. Ethel Siris, M.D. in melorheostosis if the patient also has osteopoikilo- Director, Toni Stabile Center for the Prevention & Treatment of sis. However, this is not the whole story since the , Columbia-Presbyterian Medical Center LEMD3 gene does not appear to be implicated in Other Related Conditions Metabolic Bone Diseases Program, Columbia University melorheostosis absent . Researchers Dr. Andrew Weiland, M.D. are conducting further mutational analysis and look- Melorheostosis patients may present with any number Professor, Orthopaedic & Plastic Surgery ing at the role of certain “regulator” proteins in trying of the following conditions: Weill Medical College, Cornell University to discern a cause. With each discovery there is new • Osteopoikilosis (spotted long bones) Dr. Michael Whyte, M.D. insight, new possibilities, and we are one step closer Medical-Scientific Director, Center for & to being able to identify the true cause of melorheo- • Osteopathia Striata (streaked long bones) Molecular Research, Professor of Medicine, Pediatrics & Genetics stosis. One day this question will be answered! Division of Bone & Mineral Diseases • Buschke-Ollendorf Syndrome (connective Washington Univ. School of Medicine What is the treatment and long-term progno- tissue nevi and Osteopoikilosis) Dr. Howard Worman, M.D. sis? Treatments are limited and often fraught with • Tuberous Sclerosis concern for patients and doctors alike. No treatment Associate Professor of Medicine • Neurofibromatosis Columbia University option has been found to be fully effective, and what may be helpful to one person may be ineffective or • Linear Scleroderma Dr. Michael Zasloff, M.D., Ph.D. Desmoid tumors Dean, Research & Translational Science even detrimental to another. Treatment options in- • Georgetown University Medical Center clude surgery, physical and occupational therapy, • Haemangiomas hydrotherapy, and medications to alter the bone re- • Scoliosis modeling process.