| Autor: |
Dussueil Pauline, Sergent Jean-François, Veyssière Alexis, Benateau Hervé |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Journal of Oral Medicine and Oral Surgery, Vol 28, Iss 4, p 47 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2608-1326 |
| DOI: |
10.1051/mbcb/2022029 |
| Popis: |
Introduction: Noonan Syndrome is a clinically and genetically heterogeneous syndrome, characterized by marked phenotypic variability. All the clinical manifestations of this syndrome are still not fully known. Observation: We present the case of a 58-year-old woman with a diagnosis of Neurofibromatosis-Noonan syndrome with SOS2 mutation, observed by her general practitioner for a recurrent left upper lip abscess despite drainage and antibiotic therapy. The anatomo-pathological result of the sample was in favor of an infected xanthoma. Discussion: The most common oral manifestation of Noonan syndrome includes malocclusion, dental anomalies and radiologic jaw lesions. Xanthomas of the lip have never been reported in this syndrome. Conclusion: Oral xanthomas could be one of the many oral clinical manifestations of Noonan Syndrome. However, more research is needed to understand clinical consequences of mutations in identified genes. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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