Orthopedic Surgery for Fibrous Dysplasia Clinical Presentation

Updated: Dec 10, 2018
  • Author: Bernardo Vargas, MD; Chief Editor: Harris Gellman, MD  more...
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Presentation

History and Physical Examination

Pain is a common sign of fibrous dysplasia in symptomatic patients. [16]  Most commonly, patients are asymptomatic. Patients usually seek medical care because of either painful swelling and deformity or a pathologic fracture through a weakened bone. Long bones are commonly affected. The femur is the most common location; other sites typically affected are the tibia, maxilla, and skull.

Nonskeletal manifestations include abnormal cutaneous pigmentation, precocious puberty, hyperthyroidism, Cushing disease, hyperparathyroidism, and hypophosphatemic rickets. McCune-Albright syndrome is defined as the triad of precocious puberty, polyostotic fibrous dysplasia, and cutaneous pigmentation. Typically, only females are affected by precocious puberty, [17]  but the other endocrine abnormalities occur equally in males and females. All of these abnormalities are thought to be due to the same underlying mutation.

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Complications

Fracture is the most common complication of fibrous dysplasia. In polyostotic disease, fracture occurs in more than 50% of cases.

Deformity may occur in weightbearing bones.

Malignant transformation occurs in fewer than 0.5% of cases. It is more likely to occur when polyostotic disease exists or after treatment with radiation therapy. Typically, malignant transformation occurs during the third or fourth decade of life. [13]  Benign tumors have also been associated with fibrous dysplasia. [18]

Patients with McCune-Albright syndrome have a high incidence of scoliosis (probably exceeding 50%). [9]

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