Fibrous dysplasia: A tale of two syndromes.

Mazabraud syndrome McCune–Albright syndrome fibrous dysplasia musculoskeletal skeletal dysplasia

Journal

SA journal of radiology
ISSN: 1027-202X
Titre abrégé: SA J Radiol
Pays: South Africa
ID NLM: 101305775

Informations de publication

Date de publication:
2024
Historique:
received: 14 02 2024
accepted: 24 03 2024
medline: 6 6 2024
pubmed: 6 6 2024
entrez: 6 6 2024
Statut: epublish

Résumé

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. 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.

Identifiants

pubmed: 38840825
doi: 10.4102/sajr.v28i1.2877
pii: SAJR-28-2877
pmc: PMC11151411
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Pagination

2877

Informations de copyright

© 2024. The Authors.

Déclaration de conflit d'intérêts

The authors declare that they have no financial or personal relationship(s) that may have inappropriately influenced them in writing this article.

Auteurs

Jacques Fourie (J)

Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa.

Farhana Suleman (F)

Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa.
Department of Radiology, Faculty of Health Sciences, Kalafong Provincial Tertiary Hospital, Pretoria, South Africa.

Zarina Lockhat (Z)

Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa.

Kumeshnie Kollapen (K)

Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa.

Classifications MeSH