Melorheostosis is a rare and progressive disease characterized by thickening (hyperostosis) of the outer layers of bone (cortical bone). Melorheostosis affects both bone and soft tissue growth and development. While the disorder is benign, it often results in severe functional limitation; extensive pain; malformed or immobilized muscles, tendons or ligaments; and limb, hand or foot deformity.
Signs and symptoms of melorheostosis include irregular bone growth, including cortical thickening and "dripping candle wax" appearance; unequal length of limbs; joint swelling and fusion; soft tissue abnormalities, including tendon and ligament shortening, absent or abnormal muscles, calcification, and contractures resulting in malformed or immobilized joints; range of motion limitations; pain and stiffness; sensitivity to cold; hyper-pigmentation of skin; and vascular abnormalities.
Melorheostosis usually is found in the arms and hands (upper quadrant) or legs and feet (lower quadrant). It may be found in either or both quadrants. The disease can also affect the pelvis, hips, sternum, ribs and, more rarely, the spine and skull.
The cause of melorheostosis is currently unknown. It is believed that the LEMD3 gene which is also called as MAN1 , which is critical to bone formation, may play a role in melorheostosis if the patient also has osteopoikilosis. However, this is not the whole story since the LEMD3 gene does not appear to be implicated in melorheostosis when osteopoikilosis is not present.
Researchers are conducting further mutational analysis and looking at the role of certain regulator proteins in trying to discern a cause.
Osteopoikilosis is a rare bone disorder characterized by multiple round or oval areas of increased bone density.
Osteopathia striata is a benign bone disorder characterized by longitudinal "stripes" of increased density in affected bones.
Buschke-Ollendorf syndrome is a rare hereditary disorder of connective tissue.
Tuberous sclerosis is a rare genetic multisystem disorder.
Neurofibromatosis is characterized by the development of non-cancerous tumors of nerves and skin. There are two types of neurofibromatosis.
Linear scleroderma appears as a band-like thickening of skin on the arms and legs. It typically appears first during early childhood and is characterized by the failure of one limb to grow as rapidly as its counterpart.
Desmoid tumors develop in the tissues that form tendons and ligaments, often in the arms, legs or abdomen. They are considered benign because they typically don't spread to other parts of the body.
Haemangiomas appear in early infancy and are growths made up of small blood vessels.
Scoliosis refers to side-to-side curvature of the spine. In the person with scoliosis, the spine may resemble an S rather than a straight line.
Diagnosis X-rays are the preferred diagnostic tool. They often reveal a pattern of thickened bone (sclerotic bone lesions) that resemble dripping candle wax.
Treatment Treatments are limited at the present time. No treatment option has been found to be fully effective, and what may be helpful to one person 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.
Pain management may be challenging. Medications prescribed for pain may include NSAIDs, steroids, narcotics and, occasionally, diphosphonates or biphosphonates. These medications are sometimes helpful in the early stages of the chronic progression of the disease but may be less so for the severely affected.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Melorheostosis. Entry Number;155950: Last Edit Date; 10/7/2005.
TEXTBOOKS Kasper, DL, Fauci AS, Longo DL, et al., eds. Harrison's Principles of Internal Medicine. 16th ed. McGraw-Hill Companies. New York, NY; 2005:2283.
James WD, Berger T, Elston DM, eds. Andrew's Diseases of the Skin: Clinical Dermatology. 10th ed. Saunders Elsevier. Philadelphia, PA. 2006:171.
Beighton P, ed. Mckusick's Heritable Disorders of Connective Tissue. 5th ed. St. Louis, MO: Mosby-Year Book, Inc; 1993:657
JOURNAL ARTICLES Motimaya AM, Meyers SP. Melorheostosis Involving the Cervical and Upper Thoracic Spine: Radiographic, CT, and MR Imaging Findings. AJNR Am J Neuroradiol. 2006;27:1198-1200.
Zeiler SC, Vaccaro AR, Wimberley DW, Albert TJ, Harrop JS, Hilibrand AS. Severe myelopathy resulting from melorheostosis of the cervicothoracic spine. A case report. J Bone Joint Surg Am. 2005;87:2759-62.
Wollridge B, Stone NC, Denic N. Melorheostosis isolated to the calcaneus: a case report and review of the literature. Foot Ankle Int. 2005;26:660-63.
Reznik M, Fried GW. Myelopathy associated with melorheostosis: a case report. Arch Phys Med Rehabil. 2005;86:1495-97.
Schreck MA. Melorheostosis in a pediatric patient. J Am Podiatr Med Assoc. 2005;95:167-70.
Ethunandan M, Khosla N, Tilley E, Webb A. Melorheostosis involving the craniofacial skeleton. J Craniofac Surg. 2004;11:1062-65.
Shivanand G. Srivastava DN. Melorheostosis with scleroderma. Clin Imaging. 2004;28:214-15.
Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004;36:1213-18.
Happle R. Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis. Am J Med Genet A. 2004;15:221-23.
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