Dysplasia, Fibrous

Dysplasia, Fibrous

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Dysplasia, Fibrous is not the name you expected.

Disorder Subdivisions

  • Monostotic Fibrous Dysplasia; Jaffe-Lichenstein Disease
  • Polyostotic Fibrous Dysplasia

General Discussion

Fibrous dysplasia is a term that refers to either a group of chronic conditions featuring cystic bone growth that may arise from abnormal bone development or to a disease of bone marrow (medullary bone) characterized by benign cysts. Fibrous dysplasia is characterized by uneven growth, pain, brittleness, and deformity of the affected bones. This disorder may involve a single bone (monostotic fibrous dysplasia or Jaffe-Lichtenstein disease) or may affect multiple bones (polyostotic fibrous dysplasia). Fibrous dysplasia is usually evident during childhood, and the bone lesions usually stop developing at puberty. These lesions may be painful, deforming and widespread. The bones most often affected are the ribs, skull, facial bones, thigh bone (femur), shin bone (tibia), upper arm (humerous), and pelvis. Occasionally, the bones in the spine (vertebrae) are affected. Some, but not all, affected individuals experience repeated bone fractures. The exact cause of fibrous dysplasia is not known.

Symptoms

The symptoms of fibrous dysplasia usually develop during childhood and most often include bone pain, fractures, a waddling walk, and bone deformity. Because fibrous dysplasia so weakens bones, the long, weight bearing bones of the leg may bend or bow. Individuals with this disorder may have lesions (cysts) of the craniofacial bones or long bones of the arms and legs such as the thigh bone (femur). There may be a loss of density at the location where the bone is being replaced by fibrous tissue. The tissue around the affected bone (cortical walls) may degenerate (atrophy) and the bone marrow cavity (medullary cavity) may expand, resulting in susceptibility to fracture (brittleness) as well as abnormal and/or uneven growth of the affected bone.



In some cases, only one bone is affected. This is called monostotic fibrous dysplasia. In some cases, numerous bones are affected. This is called polystotic fibrous dysplasia. Although any bone may be affected by this disorder, the femur, shin bone (tibia), skull, facial bones, upper arm bone (humerous), and ribs are most often involved. The bones of the spine (vertebrae) are affected less often. In most cases, affected bones are found on only one side of the body. In some cases, abnormal bone development of the thigh and shins results in arthritis of the hips and knees. In addition, abnormal bone development of the skull may result in vision and hearing impairment. It is important to keep in mind that fibrous dysplasia does not spread from bone to bone. It is self-limiting.



In rare cases, individuals with polyostotic fibrous dysplasia may also have McCune Albright syndrome which is characterized by signs of early sexual development (precocious puberty), skin pigmentation (cafe' au lait spots) and multiple fibrous bone lesions. (For more information on this disorder, see the Related Disorders section of this report.)

Causes

The exact cause of fibrous dysplasia is not known. Most cases seem to occur randomly (sporadically). Recent studies suggest that fibrous dysplasia may be caused by a chemical abnormality in a protein in the bone that leads to a proliferation of the bone cells that produce fibrous tissues, and to the failure to reproduce cells that produce bone. The abnormality is the result of a change in the gene (mutation) that produces the protein. Because a person is born with the disorder (congenital), combined with the observation that the disorder is not inherited, clinicians surmise that the mutation responsible for fibrous dysplasia occurs after conception in the early stages of development.

Affected Populations

Fibrous dysplasia seems to affect both males and females in equal numbers. Children and young adults are most often affected. About 50 percent of the females with polyostotic fibrous dysplasia have McCune Albright syndrome with early sexual development.

Standard Therapies

Diagnosis

The diagnosis of fibrous dysplasia may be suspected based upon a thorough clinical evaluation, a detailed patient history, and specialized tests (such as x-rays, examination of a bone specimen, and blood tests).



Treatment

Fibrous dysplasia accompanied by intractable pain may be relieved by orthopedic procedures. Surgery may also be appropriate to improve mobility, correct deformities of the face, or treat complications involving the brain or spine.



Packing with bone chips and curettage (scraping) of the lesions may be used although it has been found that in patients under 18 years of age this procedure (when used on lower extremities) is usually unsatisfactory. The same procedure used on individuals over 18 years of age may have satisfactory results. Internal fixation (stabilizing the bone with surgical wires, screws, pins or plates) may be used on lesions in the lower extremities of patients under 18 years of age.



Exercise is recommended for individuals with fibrous dysplasia in order to maintain skeletal health. However, affected individuals should be under physician supervision to minimize the risk of fracture.

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 web site.



For information about clinical trials being conducted at the 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

Bennett JC, Plum F, eds. Cecil Textbook Of Medicine, 20th Ed: W.B. Saunders Co; Philadelphia, PA: 1996:1390.



Isselbacher KJ, et al., eds. Harrison's Principles Of Internal Medicine, 14th Ed: McGraw-Hill, Inc; New York, NY: 1998:2272-73.



Berkow R, Beers M. eds. The Merck Manual, 17th Ed: Merck Research Laboratories; Whitehorse, NJ: 1999:468.



Kelley, WN, et al., eds. Textbook Of Rheumatology, 4th Ed: W.B. Saunders Company, Philadelphia, PA: 1993:1622.



REVIEW ARTICLES

Biermann JS. Common benign lesions of bone in children and adolescents. J Pediatr Orthop. 2002;15:268-73.



Marie PJ. Cellular and molecular basis of fibrous dysplasia. Histol Histopathol. 2001;16:981-88.



Cohen MM Jr. Asymmetry: molecular, biologic, embryopathic, and clinical perspectives. Am J Med Genet. 2001;101:292-314.



Spiegel AM. G Protein defects in signal transduction. Hor Res. 2000;53 Suppl 3:17-22.



Chapurlat RD, Meunier PJ. Fibrous dysplasia of bone. Baillieres Best Pract Res Clin Rheumatol. 2000;14:385-98.



Devogelaer JP. Treatment of bone diseases with bisphosphonates, excluding osteoporosis. Curr Opin Rheumatol. 2000;12:331-35.



Michael CB, Lee AG, Patrinely JR, et al. J Neurosurg. 2000;92:350-54.



GUIDES FOR THE LAYMAN

Questions And Answers About Fibrous Dysplasia. The Paget Foundation. 1995:7pp.



National Institutes of Health Osteoporosis and Related Bone Diseases-National Resource Center. Information for Patients about Fibrous Dysplasia. Rev. 8/2000:5pp.



National Institutes of Health, MEDLINE Plus. Medical Encyclopedia: Fibrous dysplasia. Update: 12/03/01



Methodist Health Care System. Bone Disorders: Fibrous Dysplasia. Houston, TX. 3pp.

Resources

MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



Paget Foundation

P O Box 24432

Brooklyn, NY 11202

Tel: (212)509-5335

Fax: (212)509-8492

Tel: (800)237-2438

Email: pagetfdn@aol.com

Internet: http://www.paget.org



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



NIH/Osteoporosis and Related Bone Diseases National Resource Center

2 AMS Circle

Bethesda, MD 20892-3676

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIHBoneInfo@mail.nih.gov

Internet: http://www.bones.nih.gov



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/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Fibrous Dysplasia Foundation, Inc.

15 Browns Court SE

Washington, DC 20003

Tel: (202)547-3288

Fax: (202)546-2854

Email: info@fibrousdysplasia.org

Internet: http://www.fibrousdysplasia.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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