Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk of colon cancer. We present the case of a family with Gardner syndrome. Cephalometric, panoramic X-rays and CBCT of the proband and her brother showed multiple osteomas affecting the skull bones, mandible and paranasal sinuses. The detailed family history showed an autosomal dominant transmission with the presence of the disease in the mother and maternal grandfather of the proband. Both had the typical signs of disease and died in the fourth decade of life. Based on these aspects the clinical diagnosis was Gardner syndrome. By gene sequencing, a novel pathogenic variant c.4609dup (p.Thr1537Asnfs*7) in heterozygous status was identified in the APC gene in both siblings. We reviewed literature data concerning the correlation between the localization of mutations in the APC gene and the extracolonic manifestations of familial adenomatous polyposis as well as their importance in early diagnosis and adequate oncological survey of patients and families based on abnormal genomic variants.
This study analyzes 35 patients with bisphosphonate-related osteonecrosis of the mandible (BRONJ) diagnosed and treated in the Oral and Maxillofacial Surgery Clinic of St. Spiridon Hospital Iasi. The inclusion criteria were in line with the recommendations of the American Association of Oral and Maxillofacial Surgery (AAOMS). The analysis included the underlying disease, the type of bisphosphonate and the route of administration, the duration of treatment as well as the osteonecrosis triggering factor. Surgery was consistent with the condition of the disease, ranging from debridement and sequestrectomy to alveolar marginal and even segmental bone resections. The results of the study were similar with the data from the literature suggesting that the condition is more common in the lower jaw compared to the upper jaw, and the main risk factors are dental extraction and intravenous bisphosphonate administration.
Chronic kidney disease (CKD) is a multifactorial syndrome and a global health concern. As renal function declines, there is a progressive deterioration of mineral homeostasis. Starting from stage 3 of CKD oral manifestations of mineral disorders can occasionally appear and become more frequent and evident in stage 5. We retrospectively analysed 43 patients diagnosed with end stage renal failure undergoing dialysis, hospitalized in our clinic for different oral and maxillofacial pathologies. The mean dialysis period was 5.43 years. Radiographic alterations afecting the jaws were found in all patients. The most common feature was partial or total loss of lamina dura, followed by alterations of the bony trabeculae. 9 patients presented brown tumors which are considered the final stage of secondary hyperparathyroidism associated with renal failure.
This manuscript highlights key aspects regarding the practical use of botulinum toxin for the conservative nonsurgical treatment of a rarely encountered, but significant posttraumatic complication—the parotid salivary fistula. It adds information to the scarce existing literature on the subject. The authors outline the main differences between postoperative and trauma-related parotid injury regarding salivary fistula treatment. A total of 6 patients with trauma-related salivary fistulas have been treated by Abobotulinum toxin A injections over the course of 5 years. The technique is detailed, describing the doses used in the presence of parenchyma and duct injuries, the location and number of injection points in relation to the wound pattern. The results were favorable, leading to the healing of the salivary fistulas in all patients, with 1 injection session, without additional conservative treatment. In our experience, the use of botulinum toxin is of great benefit for treating salivary fistulas in a traumatic context.
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