RESUMEN
Hereditary gingival fibromatosis (HGF) is a rare condition affecting the gingiva and may or may not be a clinical feature of other syndromes. It has been classified as a nondental biofilm-induced gingival disease. The pathogenesis of this condition has been poorly understood till date. Although different genetic mutations have been implicated to play a role, there is considerable interest on an addition mutation of Son of Sevenless-1 (SOS-1) gene. We report a case of a 27-year-old male patient who came to us with the complaint of enlarged gums of several years' duration. There were other members in his family who were similarly affected. After the clinical diagnosis of HGF was confirmed, the patient and his available family members were subjected to a genetic analysis for identification of mutation in SOS-1 gene, which turned out to be negative. The patient was treated with nonsurgical periodontal therapy and is under regular follow-up. To the best of our knowledge, this is the first study to assess SOS-1 mutation in an Indian family.
RESUMEN
BACKGROUND: Cytological reports of ameloblastoma are relatively rare in the literature. Appropriate cytologic diagnosis may play a significant role in its preoperative presumptive diagnosis, especially when incisional biopsy findings are inadequate. AIM: To systematically study the detailed cytomorphologic features of ameloblastoma and to evaluate the role of fine needle aspiration cytology (FNAC) in its preoperative diagnosis. MATERIALS AND METHODS: In this study, FNAC was done on 26 cases of intra-osseous jaw lesion, clinically diagnosed as odontogenic tumor or developmental odontogenic cysts and detailed cytopathological interpretation was carried out and the results were correlated with the corresponding histopathology. RESULTS: Of the 26 cases, 15 were found to be ameloblastoma and sensitivity of FNAC in the diagnosis of ameloblastoma was found to be 86.6%. None of the intra-osseous jaw lesion was false positively diagnosed as ameloblastoma in FNAC and hence the specificity was found to be 100%. CONCLUSION: Presence of cohesive epithelial cell clusters exhibiting smaller basaloid cells with peripherally placed tall columnar cells and occasional large squamous cells either adjoining the basaloid epithelial clusters or in isolated group aids in the specific cytological diagnosis of ameloblastoma and FNAC offers an excellent diagnostic aid that may play a significant role in preoperative presumptive diagnosis of ameloblastoma along with incisional biopsy.