Introduction:
Fibrous Dysplasia – McCune Albright
https://doi.org/10.1186/1750-1172-3-12
https://doi.org/10.1007/s11914-016-0317-0
Clinical triad:
https://doi.org/10.1007/s13244-018-0666-6
Representative radiographic features of fibrous dysplasia.
a: Femoral XR demonstrating diffuse involvement with fibrous dysplasia and a coxa vara (“shepherd’s crook”) deformity (red arrow). Note the irregular appearance of the distal femoral metaphyses (yellow arrowhead) resulting from FGF-23-mediated rickets. b: Humeral XR demonstrating characteristic features of fibrous dysplasia, including homogenous “ground glass” appearance and cortical thinning. Bowing has occurred at a previously fractured site in the midshaft (red arrowhead). c Spinal XR from a patient with diffuse spinal FD and resulting thoraco-lumbar scoliosis. Note the presence of bilateral intramedullary femoral rods. d: Technetium-99 scintigraphy scan showing increased tracer uptake in areas of fibrous dysplasia, including the skull, spine, right humerus, and right lower extremity (red arrowheads). Diffuse bilateral tracer uptake is also observed in the epiphyses of this growing adolescent. e: T2 MRI of the lower extremities showing well-demarcated lesions of intermediate to high signal intensity in the bilateral femurs (red arrows), corresponding to fibrous dysplasia lesions. f: CT of the skull showing diffuse homogenous, “ground glass” involvement characteristic of craniofacial fibrous dysplasia. The bilateral optic canals are involved with fibrous dysplasia and widely patent (red arrows)
Javaid, M.K., Boyce, A., Appelman-Dijkstra, N. et al. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis 14, 139 (2019). https://doi.org/10.1186/s13023-019-1102-9
Ovarian cysts:
Bilateral ovarian cysts in McCune-Albright syndrome (red arrows)
Kushchayeva, Y.S., Kushchayev, S.V., Glushko, T.Y. et al. Fibrous dysplasia for radiologists: beyond ground glass bone matrix. Insights Imaging 9, 1035–1056 (2018). https://doi.org/10.1007/s13244-018-0666-6
Testicular abnormalities:
Testicular abnormalities in McCune-Albright syndrome in three different patients. a, b: US of the testicles shows extensive echogenic material secondary to Leydig cell hyperplasia. c, d The heterogeneous appearance of the testicle with more focal, well-circumscribed areas of abnormal echogenicity. These imaging findings correlate with Leydig cell hyperplasia on pathology. e, f: The right testicle appears atrophic and demonstrates inhomogeneous echotexure and multiple punctate calcifications
Kushchayeva, Y.S., Kushchayev, S.V., Glushko, T.Y. et al. Fibrous dysplasia for radiologists: beyond ground glass bone matrix. Insights Imaging 9, 1035–1056 (2018). https://doi.org/10.1007/s13244-018-0666-6
Thyroid abnormalities:
Thyroid abnormalities in McCune-Albright syndrome (MAS) in three different patients. a–c: US of the thyroid gland shows typical microcystic changes. Macrocystic pattern (d–f) and solid thyroid nodules (g–i) can also be seen in patients with MAS
Kushchayeva, Y.S., Kushchayev, S.V., Glushko, T.Y. et al. Fibrous dysplasia for radiologists: beyond ground glass bone matrix. Insights Imaging 9, 1035–1056 (2018). https://doi.org/10.1007/s13244-018-0666-6