OBJECTIVES.: Oral cavity rare diseases include a various group of uncommon morbid conditions. For this reason they are often called "orphan diseases", as they are not interesting for research and the description of their natural history is not easy. The aim of our study is to analyze the prevalence and the distribution of oral cavity rare diseases in order to increase their knowledge and allow a fast therapeutic approach. METHODS AND MATERIAL.: 3144 patients took part to our study, they were choosen according to specific criteria and included in a experimental program; they all were prepared for oral biopsy surgery at Fatebenefratelli Hospital - Tor Vergata University of Rome. Following the results of the histological diagnosis, patients have been grouped. RESULTS.: From 1996 to 2010, we observed 1635 men and 1509 women, average age was 53 years, higher for women (55y.) and lower for men (52y.). CONCLUSIONS.: Nevertheless the low level of accordance and the difficulty in description of natural history of diseases reported in literature, we can conclude that, according to our study the onset of rare diseases shows a percentage of appearing statistically significant.

AIM OF THE WORK:The fragile-X syndrome is the most common cause of inherited mental retardation and it is associated with the FMR1 gene on X chromosome. The origin of anatomic anomalies of maxillo-facial complex is still discussed in literature. The authors describe the syndrome and report a clinical case.METHODS:Genetical and clinical aspects and the incidence of caries, periodontal disease and occlusal abrasion are reviewed. Occlusal conditions, particularly openbite and crossbite, are considered.RESULTS:The incidence of fragile-X syndrome is 1: 2000 in males and 1:4000 in females, despite this the syndrome is diagnosed with a lot of difficulties yet, because of extreme variability of the phenomenological aspects. Patients often show severe mental retardation, linked to a peculiar profile of cognitive, behavioural, and emotional dysfunction and to distinctive anatomic features, which become more evident after puberty. Concerning oral characteristics, it doesn't seem to be a significant association between the syndrome and the incidence of caries or periodontal diseases, while an ogival shaped palate is peculiar.CONCLUSIONS:Literature review suggests that when male patients with severe mental retardation without well-known cause are visited, the ipothesis of X-fragile syndrome should be considered. Even though the diagnostic hypothesis may arise from the observation of typical somatic features, the diagnosis can be confirmed only by genetical tests.

Aim Tooth agenesis is characterised by the congenital absence of one or more teeth. The Pax9 gene has been associated with nonsyndromic forms.Materials and methods To investigate the molecular mechanisms, we evaluated specific haplotypes frequency in exon 3 of the Pax9 gene in 26 patients and 21 controls, using an Italian population.Results Presence of His239His and the Ala240Pro were confirmed in exon 3 of the Pax9 gene. A frequency of 20.2% of the T allele at position 717 and a C frequency of 33% of Ala240Pro polymorphism, that reached 40.5% in the control group, were observed. The 39 C/C-240 CIC or G/Chaplotype which we defined Pax9hapl a had a proportion of 61.9% in control individuals. The frequency of Pax9hapl a tested in the patients was different from controls, being 81.3% in normalcy and 18.8% in oligodontia (p<0.05).Conclusion Our observations suggest that Pax9hapl a may have a protective effect against sporadic oligodontia.

Purpose: The use of inferior alveolar nerve somatosensory evoked potentials may represent an objective means of evaluating sensory nerve function in the maxillof acial region. The aim of this work was to confirm the existence of a standard sequence of prominent events in the trigeminal somatosensory evoked potentials (TSEPs) of inferior alveolar nerve (IAN) waveform, examine those components and their normal variability by statistical analysis, and discuss TSEPs' nervous origin and some patterns of TSEPs' abnormalities clue to dysfunctional nerves.Materials and Methods: TSEPs were obtained following electrical stimulation (square wave pulses 0.2 millisecond [ms] in duration, 4 to 6.5 mA, 0.7/second repetition rate, 200 averages) of the gum at the mental foramen level via intraoral surface electrodes and recorded from the contralateral central scalp sites.Results: We successfully recognized steady waveforms of sufficient quality and consistently recorded a "W"-shaped response: latency onset and peak of the initial deflection of positive polarity were approximately 12 ms and 20 ms, respectively. Negative and positive deflections followed with respective peak latencies at around 26 Ins and 36 ms. One side of the lower lip can be compared with the contralateral side and patients may serve as their own control in cases of unilateral nerve injury. The anaesthetic block showed the total abolition of responses. Reproducible TSEP waveform was only obtained during nerve stimulation and not during masseter muscle stimulation.Conclusions: TSEPs, obtained with the present technique, may represent an objective, low-invasive, and reliable way of testing sensory nerve function in the maxillofacial region. (c) 2006 American Association of Oral and Maxillofacial Surgeons J Oral Maxillofac Sung 64:594-599, 2006.

AIM:The aim of the present paper is to continue the previous study, with 52 new additional cases, confronting in vivo the behavior of 4 different suture materials (Ethibond Excel, Monocryl, silk and Vicryl) in oral surgery.METHODS:The clinical aspects have been particularly underlined: the intraoperative easy handling, the estate of the nodes and the resistance of the thread, the plaque accumulation, the tissue response in the short term (within 3 weeks) as well as in the long term (90 days), all estimated with objective parameters.RESULTS:Fifty-two out of a total of 55 new subjects included in the program have been followed throughout all the experimentation. Of the remaining 3, 1 didn't come for the suture removal, the second had a bleeding phenomenon 2 days after surgery and he went to the emergency department where sutures were replaced. The last one refused to come back for the 90 days control. These patients have been excluded from the experimentation. Data regarding the 52 patients are: plaque index recorded on the suture (Visible Plaque Index), number and percentage of sutures lost before 7/10 days, adverse reactions observed on the surgical site (14/20 days), total plaque index, and healing level and dental-periodontal status at 90 days.CONCLUSIONS:The clinical healing at 90 days was the same for all the different threads, differently from what happened in the critical postoperative period (within the 3 weeks).

Supernumerary teeth are relatively common in the general population, affecting the primary and the permanent dentition and have been reported in many genetic syndromes. They are classified according to form and shape. Seven different examples of hyperodontia are presented to highlight the numerical and morphological variation in dental abnormalities manifestations, empathising the importance of thorough clinical and radiological examination and of a correct therapeutic approach. The patients presented single or multiple hyperodontia, with particular interest for a 12 supernumerary teeth case. The clinical problems linked to supernumerary teeth were: impaction or ectopic eruption, crowding, possible root resorption of adjacent teeth. The therapeutical approach of supernumerary teeth varied on the position of the element in excess and on the complexity of the clinical case. In some cases the single extraction of the supernumerary tooth was indicated, while in other cases the extraction of the tooth was needed in addition to orthodontic treatment to gain sufficient space for the tooth with delayed eruption.

BACKGROUND:The increasingly frequent removal of asymptomatic or pathology free lower third molars raises several questions. In this paper, the relationships between inclusion of impacted third molars and facial typology, in studied in order to have a further evaluation parameter for their removal.METHODS:The study was carried out an 50 cephalometric radiographs. The patients, 25 males and 25 females, have been submitted to surgical treatment at our oral Surgery Department to remove the lower impacted third molarst.RESULTS:Among patients admitted for impacted third molars removal there was a larger percentage of brachyfacial (84% of the males, 71% of the females) in comparison with normofacial (8% of the males, 19% of the females) and dolichofacial (8% of the males, 10% of the females).CONCLUSIONS:The facial type, characterised by a shortened vertical dimension of the lower third of the face and an anticlockwise mandibular growth, presents a greater risk of included wisdom teeth.