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Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 6(1), 415–418 (2006), DOI:10.1359/prim.2006.0672
Fibrous dysplasia of bone (FD; OMIM#174800) is an uncommon skeletal disorder with a broad spectrum of clinical expressions, ranging from an incidentally discovered asymptomatic radiographic finding, involving a single skeletal site, to a severe disabling disease. The disease may involve one bone (monostotic), multiple bones (polyostotic FD), or even the entire skeleton (panostotic FD). In polyostotic disease, lesions of different limb bones are often (but not necessarily) ipsilateral. FD may be associated with extraskeletal lesions or dysfunction, most commonly cutaneous pigmentation, and hyperfunctioning endocrinopathies, including precocious puberty, hyperthyroidism, growth hormone (GH) excess, and Cushing syndrome. FD in combination with one or more of the extraskeletal manifestations is known as McCune-Albright syndrome (MAS). A renal tubulopathy, which includes renal phosphate wasting, is one of the most common extraskeletal dysfunctions associated with polyostotic disease. More rarely, FD may be associated with myxomas of skeletal muscle (Mazabraud's syndrome)(4) or dysfunction of heart, liver, pancreas, or other organs within the context of the MAS.
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