Orthopedic Surgery for Fibrous Dysplasia Workup

  • Author: Bernardo Vargas; Chief Editor: Harris Gellman, MD   more...
 
Updated: May 15, 2012
 

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.[22] 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.[19] 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).
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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, as in the image below. Plain radiograph of a tibia in a patient who is skPlain radiograph of a tibia in a patient who is skeletally mature, demonstrating expansion of the metaphysis and diaphysis, endosteal scalloping, and a ground-glass appearance of the matrix.
  • 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, as in the image below. Plain radiograph of a tibia in a patient who is skPlain radiograph of a tibia in a patient who is skeletally mature, demonstrating expansion of the metaphysis and diaphysis, endosteal scalloping, and a ground-glass appearance of the matrix.
  • This study is useful in determining whether disease is monostotic or polyostotic.

CT scan

  • 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.[23, 24]
  • CT scan can show a homogeneous matrix.
  • See image below for expansion of the tibia due to an expanding intramedullary lesion. CT scan of the tibia demonstrating expansion of thCT scan of the tibia demonstrating expansion of the tibia due to an expanding intramedullary lesion.

MRI[25, 24]

  • Intermediate signal intensity is present on T1-weighted images (see image below). A T1-weighted MRI image demonstrating intermediateA T1-weighted MRI image demonstrating intermediate signal intensity and no soft tissue component.
  • High signal intensity is present on T2-weighted images (see image below). A T2-weighted MRI image demonstrating increased siA T2-weighted MRI image demonstrating increased signal intensity of the matrix of the lesion.
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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.
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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.
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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.
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Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

Bernardo Vargas  MD, Consulting Staff, Department of Orthopedic Surgery, University Hospital of 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

Specialty Editor Board

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.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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.

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

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, Leonard M Miller 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.

References

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Intermediate-power view of typical histology of fibrous dysplasia. Note the bland fibrous stromal tissue with islands of disorganized, immature osteoid. A key feature is the absence of rimming osteoblasts around the osteoid. While not present in this slide, foci of cartilage also may occasionally be present.
Plain radiograph of a tibia in a patient who is skeletally mature, demonstrating expansion of the metaphysis and diaphysis, endosteal scalloping, and a ground-glass appearance of the matrix.
Technetium-99m methylene diphosphonate (MDP) bone scan demonstrating increased uptake in the tibia corresponding to the radiographic margins.
CT scan of the tibia demonstrating expansion of the tibia due to an expanding intramedullary lesion.
A T1-weighted MRI image demonstrating intermediate signal intensity and no soft tissue component.
A T2-weighted MRI image demonstrating increased signal intensity of the matrix of the lesion.
The metaplastic bone formed by fibrous dysplasia has the appearance of Chinese letters.
 
 
 
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