Paolo Bucci

Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals

Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. The syndrome is characterised by numerous basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, palmar and/or plantar pits, skeletal abnormalities and intracranial calcifications.In this paper, the clinical features of 37 Italian patients are reviewed. Jaw cysts and calcification of falx cerebri were the most frequently observed anomalies, followed by BCCs and palmar/plantar pits. Similar to the case of African–Americans, the relatively low frequency of BCCs in the Italian population is probably due to protective skin pigmentation. A future search based on mutation screening might establish a possible genotype–phenotype correlation in Italian patients.

Expression of Cell Cycle and Apoptosis-related Proteins in Sporadic Odontogenic Keratocysts and Odontogenic Keratocysts Associated with the Nevoid Basal Cell Carcinoma Syndrome

Odontogenic keratocysts are occasionally (4-5%) associated with the nevoid basal cell carcinoma syndrome, a pleiotropic, autosomal disorder presenting a spectrum of developmental abnormalities and a predisposition for the development of different neoplasms. The aim of this study was to establish whether keratocysts showing clinically aggressive behavior associated with nevoid basal cell carcinoma syndrome reflect differences in cellular proliferation rate and/or in the expression of oncoproteins and tumor suppressor genes. For this reason, formalin-fixed paraffin-embedded sections of odontogenic keratocysts associated with the nevoid basal cell carcinoma syndrome (16 cases) and sporadic odontogenic keratocysts (16 cases) were compared for expression of proliferating cell nuclear antigen (PCNA) and p53, bcl-2, and bcl-1 (cyclin Dl) onco-proteins. Most of the epithelial lining of odontogenic keratocysts associated with the nevoid basal cell carcinoma syndrome showed nuclear immunopositivity for p53 protein and overexpression of cyclin Dl with various degrees of staining intensity. All sporadic odontogenic keratocysts were negative for p53 and cyclin Dl. The expressions of bcl-2 oncoprotein were found to be substantially similar between the two groups of lesions, with a cytoplasmic immunopositivity localized only in the resting reserve basal layer of the epithelium. PCNA expression showed no statistically significant difference between the two groups of lesions. In conclusion, the finding of cyclin Dl and p53 overexpression in odontogenic keratocysts associated with the nevoid basal cell carcinoma syndrome could be considered a hallmark of a mutated cellular phenotype, thus leading to the hypothesis that their aggressive clinical behavior could be due to a dysregulation of the expression of cyclin Dl and p53 proteins, involved in a check-point control of cellular proliferation.

Oral aphthous ulcers and dental enamel defects in children with coeliac disease

AIM Coeliac disease is characterized by oral manifestations, such as dental enamel defects and recurrent oral aphthae. In this study we compared the prevalence of enamel defects and recurrent aphthous stomatitis (RAS) between patients diagnosed with coeliac disease and healthy controls. METHODS A total of 72 patients with coeliac disease were studied together with 162 normal healthy subjects as controls to individualize the prevalence of enamel defects and recurrent aphthous stomatitis (RAS) in this disease. RESULTS Dental enamel defects were found in 14/70 (20%) coeliac patients and in 9/159 (5.6%) controls. In particular, 13/53 (24.5%) coeliac patients with mixed or permanent dentition and 1/17 (5.8%) coeliac children with deciduous dentition had enamel defects. Altogether, 9/145 (6.2%) control subjects with mixed or permanent dentition had dental enamel defects. None of the controls with deciduous dentition had enamel defects. Thus, the enamel defects occurred more frequently in coeliac patients (p < 0.001). Regarding RAS, 24/72 (33.3%) coeliac patients and 38/162 (23.4%) control subjects had aphthous ulcers. Statistically significant differences were not observed between the two groups (p > 0.05). One in three coeliac subjects suffering from RAS received benefit from a gluten-free diet. CONCLUSION In the present study, the prevalence of enamel defects was found to be greater in coeliac patients than healthy controls. Even though the prevalence of RAS in coeliac subjects varied from healthy controls, the difference was not statistically significant. However, more than 1/3 coeliac subjects suffering from RAS benefited from a gluten-free diet.

Prevention of Hemorrhagic Complications After Dental Extractions Into Open Heart Surgery Patients Under Anticoagulant Therapy: The Use of Leukocyte- and Platelet-Rich Fibrin

Leukocyte- and platelet-rich fibrin (L-PRF) is a biomaterial commonly used in periodontology and implant dentistry to improve healing and tissue regeneration, particularly as filling material in alveolar sockets to regenerate bone for optimal dental implant placement. The objective of this work was to evaluate the use of L-PRF as a safe filling and hemostatic material after dental extractions (or avulsions) for the prevention of hemorrhagic complications in heart surgery patients without modification of the anticoagulant oral therapy. Fifty heart surgery patients under oral anticoagulant therapy who needed dental extractions were selected for the study. Patients were treated with L-PRF clots placed into 168 postextraction sockets without modification of anticoagulant therapy (mean international normalized ratio  =  3.16 ± 0.39). Only 2 patients reported hemorrhagic complications (4%), all of which resolved a few hours after the surgery by compression and hemostatic topical agents. Ten patients (20%) showed mild bleeding, which spontaneously resolved or was resolved by minimal compression less than 2 hours after surgery. No case of delayed bleeding was reported. The remaining 38 patients (76%) showed an adequate hemostasis after the dental extractions. In all cases, no alveolitis or painful events were reported, soft tissue healing was quick, and wound closure was always complete at the time of suture removal one week after surgery. The proposed protocol is a reliable therapeutic option to avoid significant bleeding after dental extractions without the suspension of the continuous oral anticoagulant therapy in heart surgery patients. Other applications of the hemostatic and healing properties of L-PRF should be investigated in oral implantology.

Localized amyloidosis of the upper gingiva: a case report

IntroductionLocalized amyloidosis in the head and neck is a rare and generally benign condition. In the oral cavity, amyloidosis usually involves the tongue or buccal mucosa. We present the second case of oral amyloidosis arising in the gingiva ever reported, to the best of our knowledge.Case presentationA 73-year-old White Spanish man presented a persistent nodular mass involving his upper gingiva. The lesion was surgically resected and the histological examination revealed a subepithelial, multinodular amorphous and fibrillar accumulation. Staining of the specimen for Congo red proved positive, exhibiting a reddish colour under light microscopy and apple-green birefringence under polarized light. With immunohistochemical tests, pentagonal amyloid component was demonstrated. An extensive study excluded any systemic involvement; a diagnosis of localized primary amyloidosis was made. After 2 years of follow-up, no clinical progression to systemic amyloidosis or local recurrence was observed.ConclusionsLocalized amyloidosis of the gingiva is an extremely rare condition that seems to show no clinically distinct feature. Histologic examination is the first step towards diagnosis, followed by immunohistochemical tests. The diagnosis of localized amyloidosis should always be integrated with blood tests, a bone marrow biopsy, echocardiography and digestive endoscopy to intercept systemic involvement.

Granular Cell Tumour of the Tongue in a 8-Year-Old Boy: A Case Report

Granular cell tumor is a relatively uncommon benign neoplasm that occurs in almost any part of the body, with the head and neck region involved in 45 to 65% of the cases. The peak of incidence is generally in the fourth to sixth decades of life, while it is very rarely encountered in children. Usually, it appears as a singular nodular mass covered by intact overlying mucosa. Its etiology and histogenesis is unclear; in addition, its nature is sometimes questioned due to the occurrence of malignancy in less than 2% of all lesions, and/or recurrence or metastasis to regional lymph nodes despite a benign histopathological appearance. In the present paper, we describe a case with intraoral location occurred in a child, whose clinical and immuno- histopathological features seem to confirm a benign course of tumor even in the childhood.

Lichen planus of the lips: an intermediate disease between the skin and mucosa? Retrospective clinical study and review of the literature

Lichen planus of the lips (LPL) is not frequently described in the literature. The objective of this study is to investigate the clinical outline, behavior, and prognosis of LPL.

Oral aphthous ulcers and dental enamel defects in children with coeliac disease: Oral manifestations and coeliac disease

Aim: Coeliac disease is characterized by oral manifestations, such as dental enamel defects and recurrent oral aphthae. In this study we compared the prevalence of enamel defects and recurrent aphthous stomatitis (RAS) between patients diagnosed with coeliac disease and healthy controls. Methods: A total of 72 patients with coeliac disease were studied together with 162 normal healthy subjects as controls to individualize the prevalence of enamel defects and recurrent aphthous stomatitis (RAS) in this disease. Results: Dental enamel defects were found in 14/70 (20%) coeliac patients and in 9/159 (5.6%) controls. In particular, 13/53 (24.5%) coeliac patients with mixed or permanent dentition and 1/17 (5.8%) coeliac children with deciduous dentition had enamel defects. Altogether, 9/145 (6.2%) control subjects with mixed or permanent dentition had dental enamel defects. None of the controls with deciduous dentition had enamel defects. Thus, the enamel defects occurred more frequently in coeliac patients (p<0.001). Regarding RAS, 24/72 (33.3%) coeliac patients and 38/162 (23.4%) control subjects had aphthous ulcers. Statistically significant differences were not observed between the two groups (p > 0.05). One in three coeliac subjects suffering from RAS received benefit from a gluten‐free diet.

Expression and clinical implication of cyclooxygenase-2 and e-cadherin in oral squamous cell carcinomas.

ABSTRACT Epithelial-Mesenchymal Transition (EMT) and angiogenesis are crucial events for development of aggressive and often fatal Oral Squamous Cell Carcinomas (OSCCs). Both promote cancer progression and metastasis development, but while the former induces the loss of E-cadherin expression and, hence cadherin switching; the latter produces hematic blood vessel neo-formation and contribute to OSCC cell growth, tumor mass development, and dissemination. Cyclooxygenase-2 (COX-2) has an important role, not only in angiogenic mechanisms, but also in favoring cancer invasion. Indeed it decreases the expression of E-cadherin and leads to phenotypic changes in epithelial cells (EMT) enhancing their carcinogenic potential. Our aim is to evaluate the interplay between E-cadherin cytoplasmic delocalization, COX-2 up-regulation and COX-2 induced neo-angiogenesis in 120 cases of OSCC. We have analyzed the distribution and the number of neo-formed endothelial buds surrounding infiltrating cells that express COX-2, as well as the neo-formed vessels in chronic inflammatory infiltrate, which surround the tumor. A double immunostaining method was employed in order to verify co-localization of endothelial cell marker (CD34) and COX-2. IHC has also been used to assess E-cadherin expression. Our data demonstrate that the OSCC cells, which lose membranous E-cadherin staining, acquiring a cytoplasmic delocalization, overexpress COX-2. Moreover, we find a new CD34+ vessel formation (sprouting angiogenesis). Only basaloid type of OSCC showes low level of COX-2 expression together with very low level of neo-angiogenesis and consequent tumor necrosis. The well-known anti-metastatic effect of certain COX-2 inhibitors suggests that these molecules might have clinical utility in the management of advanced cancers.