Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy

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...

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Veröffentlicht in:Oral and maxillofacial surgery 2024-06, Vol.28 (2), p.991-997
Hauptverfasser: Friedrich, Reinhard E., Rutkowski, Rico, Gosau, Martin
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container_title Oral and maxillofacial surgery
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creator Friedrich, Reinhard E.
Rutkowski, Rico
Gosau, Martin
description 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.
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source MEDLINE; SpringerLink Journals
subjects Case Report
Case reports
Diagnosis, Differential
Disease
Granuloma, Giant Cell - diagnosis
Granuloma, Giant Cell - pathology
Granulomas
Humans
Jaw Diseases - diagnosis
Mandibular Diseases - diagnosis
Mandibular Diseases - diagnostic imaging
Maxillofacial surgery
Medicine
Medicine & Public Health
Mutation
Noonan Syndrome - diagnosis
Noonan Syndrome - genetics
Oral and Maxillofacial Surgery
Phosphatase
Teeth
Tumors
title Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy
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