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
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
2877Informations 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.