Case Series Fibrous dysplasia: A tale of two syndromes

Jacques Fourie, Farhana Suleman, Zarina Lockhat, Kumeshnie Kollapen

South African Journal of Radiology | Vol 28, No 1 | a2877 | DOI: https://doi.org/10.4102/sajr.v28i1.2877 | © 2024 Jacques Fourie, Farhana Suleman, Zarina Lockhat, Kumeshnie Kollapen | This work is licensed under CC Attribution 4.0
Submitted: 14 February 2024 | Published: 23 May 2024

About the author(s) Jacques Fourie, Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa; and, Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa
Farhana Suleman, Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa; and, Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa; and, Department of Radiology, Faculty of Health Sciences, Kalafong Provincial Tertiary Hospital, Pretoria, South Africa
Zarina Lockhat, Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa; and, Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa
Kumeshnie Kollapen, Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa; and, Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa

Abstract

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.

Keywords

fibrous dysplasia; Mazabraud syndrome; McCune–Albright syndrome; musculoskeletal; skeletal dysplasia

Metrics Total abstract views: 0
Total article views: 0

Crossref Citations

No related citations found.