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

TY - JOUR

T1 - Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy

AU - Friedrich, Reinhard E

AU - Rutkowski, Rico

AU - Gosau, Martin

N1 - © 2024. The Author(s).

PY - 2024/6

Y1 - 2024/6

N2 - 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.

AB - 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.

U2 - 10.1007/s10006-024-01209-2

DO - 10.1007/s10006-024-01209-2

M3 - Case report

C2 - 38347383

VL - 28

SP - 991

EP - 997

JO - ORAL MAXILLOFAC SURG

JF - ORAL MAXILLOFAC SURG

SN - 1865-1550

IS - 2

ER -