Which clinical history findings are characteristic of polyostotic fibrous dysplasia (PFD) in McCune-Albright syndrome (MAS)?

Updated: Jan 17, 2019
  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
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Answer

In cases where polyostotic fibrous dysplasia (PFD) is marked, multiple pathologic fractures are prominent early in the history (usually in childhood). [30] In many cases, bony involvement predominates clinically on 1 side.

The potential presenting features include gait anomalies (eg, a limp), visible bony deformities, bone pain, and joint stiffness with pain, most often the result of secondary osteoarthrosis. Symptoms begin during childhood, though in some cases, the disease is clinically silent and is discovered on routine radiographs obtained for an unrelated reason. In other cases, the phenotypic affectation is mild, and the onset of symptoms is considerably delayed; subtle findings can include mild facial asymmetry, dysmorphism, and a small difference in limb length.

Spontaneous improvement or resolution of the bony lesions does not occur. Existing bony lesions may slowly worsen or remain static, or new lesions may develop. Bony lesions have been noted to worsen during pregnancy and other settings of estrogen excess. This worsening may be due to the trophic effects of estrogen on fibrous dysplastic bone, which does possess estrogen receptors.

Patients with myxomas often present with a history of palpable masses in the limbs, anterior abdominal wall, or back. These often are otherwise asymptomatic and may be painful.


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