Melorheostosis

Melorheostosis

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Melorheostosis is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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.

Symptoms

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.

Causes

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.

Affected Populations

Both sexes are affected. The age of diagnosis is typically based on severity of onset and symptoms.

Standard Therapies

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.

Investigational Therapies

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:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

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.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Melorheostosis. Entry Number;155950: Last Edit Date; 10/7/2005.



What is Melorheostosis? Melorheostosis Association. ©2001-2006. 2pp.

www.melrheostosis.com



Melorheostosis. University of Washington MSK Residents Projects. Posted: 8/23/03. 3pp.

http://uwmsk.org/residentprojects/mlorheostosis.html

Resources

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Melorheostosis Association

410 East 50th Street

New York, NY 10022

Tel: (517)521-4459

Email: kathleen@melorheostosis.org

Internet: http://www.melorheostosis.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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