Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy.
Central giant cell granuloma
Jaw
Noonan syndrome
RASopathy
Journal
Oral and maxillofacial surgery
ISSN: 1865-1569
Titre abrégé: Oral Maxillofac Surg
Pays: Germany
ID NLM: 101319632
Informations de publication
Date de publication:
13 Feb 2024
13 Feb 2024
Historique:
received:
12
07
2023
accepted:
07
01
2024
medline:
13
2
2024
pubmed:
13
2
2024
entrez:
12
2
2024
Statut:
aheadofprint
Résumé
Noonan syndrome (NS) is a phenotypically variable inherited multi-system disorder. Maxillofacial findings can be diagnostic, especially in the evaluation of discrete facial dysmorphia. Diagnostic landmark findings of therapeutic relevance for the jaws such as central giant cell granuloma (CGCG) are rare in NS. However, recent molecular genetic studies indicate that these rare, benign lesions are neoplasms and more common in specific syndromes grouped under the umbrella term RASopathies. A specialist surgical diagnosis can be helpful in identifying the underlying disease. This report outlines diagnosis and treatment of a case of CGCG for which jaw diagnosis became the key to identifying a syndromic disease.
Identifiants
pubmed: 38347383
doi: 10.1007/s10006-024-01209-2
pii: 10.1007/s10006-024-01209-2
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. The Author(s).
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