27th February 2025

Fibrous dysplasia

Fibrous dysplasia is characterised by cystic (radiolucent) bone lesions which expand to cause pain, deformity and fractures.

McCune-Albright syndrome refers to a polyostotic (involving multiple bones) form of the disease with significant female preponderance that is associated with certain extraskeletal features. These consist of café-au-lait macules and hyperfunctioning endocrinopathies, such as growth hormone excess, thyroid lesions/hyperthyroidism and gonadotropin-independent precocious puberty. Diagnosis is often obvious from the clinical history, examination, and imaging, which demonstrate characteristic lesions with increased radionuclide uptake on scintigraphy. However, those presenting with monostotic disease without extraskeletal manifestations (more common presenting form in adults) may require histological examination, as conditions causing similar lesions on imaging, including primary or secondary bone malignancies, must be excluded. Any patient complaining of a rapid increase in pain and swelling of an affected site should be investigated for potential malignant transformation, which is known to rarely occur.