Resumo

FOURIE, Jacques; SULEMAN, Farhana; LOCKHAT, Zarina  e  KOLLAPEN, Kumeshnie. Fibrous dysplasia: A tale of two syndromes. S. Afr. J. radiol. (Online) [online]. 2024, vol.28, n.1, pp.1-5. ISSN 2078-6778.  http://dx.doi.org/10.4102/sajr.v28i1.2877.

Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome. CONTRIBUTION: Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability

Palavras-chave : fibrous dysplasia; Mazabraud syndrome; McCune-Albright syndrome; musculoskeletal; skeletal dysplasia.

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