eMedicine Specialties > Orthopedic Surgery > Neoplasms

Fibrous Dysplasia: Workup

Author: Bernardo Vargas, MD, Consulting Staff, Department of Orthopedic Surgery, Hôpital Universitaire de Geneva, Switzerland
Coauthor(s): Mark Clayer, MD, MBBS, FRACS, FAOrthA, Head of Musculoskeletal Tumor Service, Department of Orthopaedics and Trauma, Queen Elizabeth Hospital; Senior Visiting Medical Specialist, Royal Adelaide Hospital and Women's and Children's Hospital, Australia
Contributor Information and Disclosures

Updated: Aug 13, 2008

Workup

Laboratory Studies

  • Molecular diagnosis using the techniques of polymerase chain reaction (PCR) analysis with peptide nucleic acid (PNA) has shown that fibrous dysplasia patients have blood cells with the G protein gene (GNAS) mutation. Diagnosis of fibrous dysplasia or McCune-Albright syndrome could be helped by identification of this mutation in the peripheral blood.21 Utility of this technique is still being evaluated.
  • Serum alkaline phosphatase levels are often elevated during active phases of this disease. This test could be useful to asses the evolution of disease in patients treated with bisphosphonates.
  • About 25% of patients may have a vitamin D deficiency.18 Serum calcium, phosphate, and vitamin D levels are useful to exclude rickets.
  • Pituitary gonadotropins and gonadosteroids are assessed to assist in the workup of precocious puberty.
  • Patients with the polyostotic form, particularly McCune-Albright syndrome, must be evaluated to exclude hyperthyroidism, pituitary gigantism, or hypercortisolism (possible autonomous endocrine hyperfunction).

Imaging Studies

Plain radiographs

  • The most common site of involvement in both the monostotic and polyostotic forms of fibrous dysplasia is the femur.10
  • Lesions in the long bones are medullary and usually affect the diaphysis and extend toward the metaphysis (see Image 2).
  • Typically, the matrix of the lesion has a ground-glass appearance. The lesion produces endosteal scalloping with a thin intact cortical shell. The contour of the bone may be expanded by the lesion.
  • The classic deformity that results with involvement of the proximal femur is described as a shepherd's crook deformity due to the deformation into varus.

Technetium-99m methylene diphosphonate (MDP) bone scan.

  • Increased uptake of the label that corresponds to osteoblastic activity in the area of involvement is seen on radiographs (see Image 3).
  • This study is useful in determining whether disease is monostotic or polyostotic.


CT scan (see Image 4)

  • CT scan confirms a lesion confined to the interior of bone with no soft-tissue component. It is helpful in distinguishing fibrous dysplasia from a malignancy.22
  • CT scan can show a homogeneous matrix.
MRI
  • Intermediate signal intensity is present on T1-weighted images (see Image 5)
  • High signal intensity is present on T2-weighted images (see Image 6) . 

Diagnostic Procedures

Biopsy

  • Needle biopsy is used to establish the diagnosis of fibrous dysplasia, especially in monostotic cases.
  • Open biopsy should be performed only as part of a multidisciplinary team approach, with personnel experienced in the management of both benign and malignant bone and soft-tissue sarcomas.

Histologic Findings

  • The gross findings of fibrous dysplasia include a centrally located, tan-to-gray-white, gritty-feeling lesion.
  • The microscopic appearance shows a fibrous/collagenous matrix with randomly oriented bone or fiber trabeculae that are formed by osseous metaplasia of spindled stromal cells.
  • The spicules of immature bone that are produced are short and irregular and are not lined by osteoblasts.
  • The appearance has been described as that of Chinese letters. 
  • Small nodules of cartilage are found within the fibrous matrix in 10% of cases.

Staging

  • Monostotic fibrous dysplasia is active while it is growing but often becomes inactive after puberty. It may reactivate during pregnancy.
  • Polyostotic disease typically remains active throughout life.

More on Fibrous Dysplasia

Overview: Fibrous Dysplasia
Workup: Fibrous Dysplasia
Treatment: Fibrous Dysplasia
Follow-up: Fibrous Dysplasia
Multimedia: Fibrous Dysplasia
References
[ CLOSE WINDOW ]

References

  1. Alman BA, Greel DA, Wolfe HJ. Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res. Mar 1996;14(2):311-5. [Medline].

  2. DiCaprio M. R., Enneking W. F. Fibrous Dysplasia. Pathophysiology, Evaluation, and Treatment. J Bone Joint Surg Am. 2005;87:1848-1864. [Medline].

  3. Marie P. Dysplasie fibreuse : aspects tissulaires, cellulaires et moléculaires. Revue du rhumatisme. 2003;7:681–686.

  4. Albright F, Butler AM, Hampton AO. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. New Engl J Med. 1937;216:727-46.

  5. Fraser WD, Walsh CA, Birch MA. Parathyroid hormone-related protein in the aetiology of fibrous dysplasia of bone in the McCune Albright syndrome. Clin Endocrinol. 2000;53(5):621-8. [Medline].

  6. Parekh S, Donthineni-Rao R, Ricchetti E. Fibrous dysplasia. J Am Acad Orthop Surg. 2004;12:305-313. [Medline].

  7. Santos CT, Choo CT, Loh AH. Orbital fibrous dysplasia with soft tissue hamartoma--a variant of Mazabraud's syndrome. Orbit. 2008;27(3):207-9. [Medline].

  8. Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. Mar 2008;22(1):55-69. [Medline].

  9. Lichtenstein L, Jaffe HL:. Fibrous dysplasia of bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Pathol. 1942;33:777-816.

  10. Ippolito E. Bray E. W., Corsic A. et als. Natural history and treatment of fibrous dysplasia of bone:a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society. J of Ped Orthop Part B. 2003,;12:155–177. [Medline].

  11. Ruggieri P, Sim FH, Bond JR, Unni KK. Malignancies in fibrous dysplasia. Cancer. 1994;73(5):1411-24. [Medline].

  12. Yabut SM Jr, Kenan S, Sissons HA, Lewis MM. Malignant transformation of fibrous dysplasia. A case report and review of the literature. Clin Orthop. 1988;228:281-9. [Medline].

  13. Marie PJ, de Pollak C, Chanson P, Lomri A. Increased Proliferation of Osteoblastic CellsExpressing the Activating Gsa Mutation in Monostotic and Polyostotic Fibrous Dysplasia. Am J Pathol. 1997;150:1059-1069. [Medline].

  14. Guille JT, Kumar SJ, MacEwen GD. Fibrous dysplasia of the proximal part of the femur. Long-term results of curettage and bone-grafting and mechanical realignment. J Bone Joint Surg Am. May 1998;80(5):648-58. [Medline].

  15. Stanton RP, Diamond L. Surgical management of fibrous dysplasia in McCune-Albright syndrome. Pediatr Endocrinol Rev. Aug 2007;4 Suppl 4:446-52. [Medline].

  16. Kumta SM, Leung PC, Griffith JF, et al. Vascularised bone grafting for fibrous dysplasia of the upper limb. J Bone Joint Surg Br. Apr 2000;82(3):409-12. [Medline].

  17. Chapurlat RD, Hugueny P, Delmas PD, Meunier PJ. Treatment of fibrous dysplasia of bone with intravenous pamidronate: long-term effectiveness and evaluation of predictors of response to treatment. Bone. 2004;Volume 35, Issue 1:235-242. [Medline].

  18. Liens D, Delmas PD, Meunier PJ:. Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Lancet. 1994;343:953-954. [Medline].

  19. Zacharin M, O'Sullivan M. I. Intravenous pamidronate treatment of polyostotic fibrous dysplasia associated with the McCune Albright syndrome. J Pediatr. 2000;137(3):403-9. [Medline].

  20. DiMeglio LA. Bisphosphonate therapy for fibrous dysplasia. Pediatr Endocrinol Rev. Aug 2007;4 Suppl 4:440-5. [Medline].

  21. Lietman SA, Ding C, Levine MA. A. A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Joint Surg Am. 2005;87:2489-2494. [Medline].

  22. Murray DJ, Edwards G, Mainprize JG, Antonyshyn O. Advanced technology in the management of fibrous dysplasia. J Plast Reconstr Aesthet Surg. Aug 2008;61(8):906-16. [Medline].

  23. Bridge JA, Rosenthal H, Sanger W. Desmoplastic fibroma arising in fibrous dysplasia. Clin Orthop. 1998;247:272-8. [Medline].

  24. McCune DJ:. Osteitis fibrosa cystica: the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child. 1936;52:743-747.

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

fibrous dysplasia, bone dysplasia, osteochondrodysplasia, Albright disease, bone disease, dysplasia, fibrous dysplasia of bone, fibrous dysplasia bone, cherubism, dysplastic disorder, connective tissue, fibroosseous tissue, lamellar bone, monostotic fibrous dysplasia, polyostotic fibrous dysplasia, precocious puberty, skin pigmentation, McCune-Albright syndrome, Mazabraud syndrome, McCune-Albright's syndrome, Mazabraud's syndrome, Albright's disease, Albright syndrome, Albright's syndrome

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Bernardo Vargas, MD, Consulting Staff, Department of Orthopedic Surgery, Hôpital Universitaire de Geneva, Switzerland
Disclosure: Nothing to disclose.

Coauthor(s)

Mark Clayer, MD, MBBS, FRACS, FAOrthA, Head of Musculoskeletal Tumor Service, Department of Orthopaedics and Trauma, Queen Elizabeth Hospital; Senior Visiting Medical Specialist, Royal Adelaide Hospital and Women's and Children's Hospital, Australia
Mark Clayer, MD, MBBS, FRACS, FAOrthA is a member of the following medical societies: Australian Medical Association and Australian Orthopaedic Association
Disclosure: Orthopedics hyperguide Honoraria Independent contractor; Stryker Grant/research funds Employment

Medical Editor

Howard A Chansky, MD, Associate Professor, Department of Orthopedics and Sports Medicine, University of Washington Medical Center
Howard A Chansky, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Sean P Scully, MD, PhD, Professor, Department of Orthopedics, University of Miami
Sean P Scully, MD, PhD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, International Society on Thrombosis and Haemostasis, and Society of Surgical Oncology
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Harris Gellman, MD, Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami School of Medicine
Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, and Arkansas Medical Society
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.