Aim: Familial Tumoral Calcinosis (FTC) is a rare autosomal recessive disorder characterized by ectopic calcifications in periarticular location. The hip, shoulder and elbow are common locations. The foot, leg, Knee and hand are involved less frequently. FTC can be due to mutations in GALNT3 gene encoding for glycosyltransferase, a protein that helps to regulate phosphate levels, or Fibroblast Growth Factor 23 gene (FGF 23). This is secreted by bone cells and acts at the kidney to regulate phosphate reabsorption and vitamin D3 production. The aim of our work is to describe a case of FTC with dental anomalies and bisphosphonates therapy undergone to orthodontic and surgical treatment. Materials and Metods: A 13 years-old boy with FTC was referred to our observation and he underwent a complete clinical examination and biochemical, radiological, genetic testing : to intraoral examination teeth are smaller than normal with enamel hypoplasia, panoramic radiographs revealed unerupted 1.3, 2.3, 3.3, 4.3 and tooth anomalies ( short bulbous teeth with obliteration of the pulp chamber and root canal), x-ray pelvis showed calcified areas around of both hip joints. Laboratory tests showed hyperphosphatemia, normocalcemia, elevated level of parathyroid hormone and normal level of 1,25 vitamin D3 and DNA sequencing identified a mutation in GALNT 3 gene. After cephalometric analysis of lateral teleradiographs of the skull an orthodontic treatment with rapid maxillary expansion and subsequent alignment was performed. Results: Orthodontic treatment has solved the malocclusion with the correction of skeletal relationship and dental class. Discussion: Considering the characteristics of the disease which has an alteration of bone metabolism, the assumption of biphosphates which reduce dental movement and the presence of teeth with anomolous roots in a short and stocky form, it has been thought convenient to proceed with an orthodontic treatment using light force (.012, .014, .016 N.T. wires) even though the application of the E.R.P. has given excellent results with the opening of the medial palatine suture.Conclusion: Literature doesn't describe cases of patients having FTC orhodontic and orhtopaedic treatment. Our experience shows that timely management of orthodontic forces allows reaching positive results which remain stable in time (2 year follow-up).

Objective: Cri du Chat Syndrome (CCS) is a rare chromosomal disorder resulting from deletion of the short arm of chromosome 5, characterized by distinctive catlike cry since born due to typical larynx (small and narrow) and epiglottis anomalies. We report on still unreported clinic-pathological features CCS: diffuse Gingival Fibromatosis (GF) with Confocal Laser Scanning Microscopic (CLSM) examination.Case Presentation: A 21-year-old female, affected by CCS showed diffuse GF on the palatal gingiva in the molar region (linked to dental dislocation and malocclusion), which was surgically removed by Diode Laser, formalin-fixed, stained with hematoxylin-eosin and picrosirius red and analyzed at CLSM Nikon E-600 with double Laser inducing fluorescence (green and red).Results: Microscopically, the lesion consisted in large parallel collagenous fibers, abundant blood vessels with plump endothelial cells and chronic inflammatory reaction, and large polygonal cells in the vascular interstitial spaces, with large nuclei, resembling undifferentiated totipotent mesenchymal cells (stem-like cells). At CLSM large and variably oriented collagenous fibers displayed intense fluorescence due to cross-linking between such fibers, which generally characterize fibromatosis, and the vascular structures. The latter showed lower fluorescence intensity, and were surrounded by loose collagenous fibers and trapezoidal large mesenchymal cells.Conclusions: GF seems a characteristic feature of CCS, with typical fluorescent pattern at CLSM, in which purported totipotent mesenchymal cells may play a pathogenetic role.

Obiettivo Le malattie Rare sono condizioni morbose poco conosciute, gravi e invalidanti prive di terapia specifica che colpiscono un numero limitato di individui. Sono definite tali sulla base di una bassa prevalenza nella popolazione che per l’Italia è compresa da 1:20.000 a 1: 200.000. Il loro numero è stimato dall’O.M.S. intorno a 5.000. Queste patologie, in genere geneticamente determinate, possono presentare manifestazioni nel distretto oro-facciale quali anomalie dentarie, scheletriche, lesioni mucose che in alcuni casi possono costituire il primo segno di manifestazione della malattia.Lo scopo del lavoro è fornire i dati relativi all’attività degli ultimi 5 anni del C.I.R. (Bollettino Ufficiale della Regione Puglia n.36 del 05/03/2008) svolta dal reparto di pedodonzia che si occupa dello studio delle malattie rare al fine di stabilire dei criteri di diagnosi e dei protocolli di trattamento e di riabilitazione. MATERIALI E METODI Nel periodo compreso dal 2005 al 2010 sono stati trattati 400 pazienti affetti da malattie rare per prestazioni ambulatoriali e trattamenti in sedazione conscia e narcosi. RISUTATI I pazienti sono stati curati avvalendosi di tecnologie innovative e di nuove metodiche ortodontiche. CONCLUSIONI I percorsi diagnostici – terapeutici delle malattie rare richiedono un’assistenza ultraspecialistica e pluridisciplinare e presentano difficoltà per l’esiguo numero di pazienti arruolabili nei trial clinici, per la scarsa disponibilità di conoscenze scientifiche e di opzione terapeutiche valide. L’attività del C.I.R. (Centro Interregionale di Riferimento) è quella di inquadrare opportunamente tali patologie e di stabilire l’iter diagnostico e terapeutico individuale in relazione alla differente espressività fenotipica della malattia.

Abstract AIM: The aim of this study was to assess the correlation between osteogenesis imperfecta (OI) and dentinogenesis imperfecta (DI) from both a clinical and histological point of view, particularly clarifying the structural and ultrastructural dentine changes. DESIGN: Sixteen children (6-12 years aged) with diagnosis of OI were examined for dental alterations referable to DI. For each patient, the OI type (I, III, or IV) was recorded. Extracted or normally exfoliated primary teeth were subjected to a histological examination (to both optical microscopy and confocal laser-scanning microscopy). RESULTS: A total of ten patients had abnormal discolourations referable to DI: four patients were affected by OI type I, three patients by OI type III, and three patients by OI type IV. The discolourations, yellow/brown or opalescent grey, could not be related to the different types of OI. Histological exam of primary teeth showed severe pathological change in the dentin, structured into four different layers. A collagen defect due to odontoblast dysfunction was theorized to be on the base of the histological changes. CONCLUSIONS: There is no correlation between the type of OI and the type of discolouration. The underlying dentinal defect seems to be related to an odontoblast dysfunction.

Introduction: We report on the clinic-pathological features of Familial Tumoral Calcinosis (FTC), a rare disease of early childhood and adulthood, caused by mutations in fibroblast growth factor 23 and GalNAc transferase 3. It is a bone metabolism disorder with abnormal phosphate and calcium (calcinosis) deposits around the joints, in visceral and soft tissues. Case Presentation: A 17 year-old girl complaining for long-standing night leg pain, resistant to FANS therapy, had been diagnosed with osteogenesis imperfecta and was therefore undergoing bisphosphonates therapy. She was referred to our Dental Clinic for diffuse dental anomalies (short and irregular roots, dental chambers anomalies, teeth inclusions) and maxillary hypoplasia and underwent combined surgical and orthodontic treatment. The surgical samples were used for conventional and Confocal Laser Scanning Microscopic (Nikon E-600) (CLSM) examination. Results and conclusions: Microscopically several metaplastic micro and macro-calcificationin soft and periodontal tissue location were detected, along with a typical islands of homogenous, non tubular, dentino-osteoid calcified structures in dentinal tissues. Also, dentinal dysplasia with osteoid-like material, without incremental lines but with strong basophilia, intermingled with remnants of mature mucous connective tissue, was demonstrated. The diagnosis of FTC was confirmed by genetic analysis. CLSM helps to demonstrate distinct odontoblast and osteoblast anomalies in FTC that lead to the accumulation of atypical calcified tissues, responsible for the several clinical signs detected in the patient and formerly attributed to osteogenesis imperfecta.

Introduzione Il fibroma ossificante periferico (P.O.F.) è una lesione gengivale a partenza dalla papilla interdentale con un’incidenza pari al 9,6% delle lesioni gengivali. Può essere peduncolato o sessile, di colore rosso o roseo, talvolta ulcerato. Interessa più frequentemente la 2a decade di vita tra i 25 e i 35 anni e particolarmente il sesso femminile con un rapporto 2:1 ; il 50% delle lesioni si evidenziano in corrispondenza delle papille interdentali degli incisivi nella regione anteriore del mascellare superiore . L’eziologia e la patogenesi del P.O.F. rimane sconosciuta. Alcuni autori ritengono che si tratti di un processo neoplastico, altri di un processo reattivo favorito da fattori locali irritanti (accumulo di placca, tartaro, restauri incongrui) o da un trauma locale, e che la lesione abbia origine dalle cellule del legamento parodontale causando spesso un progressivo riassorbimento dell’osso con migrazione dei denti vicini. Case report Si presenta il caso di un pz. maschio di aa 18 in terapia ortodontica fissa con ampia lesione sessile al colletto palatale dell’incisivo laterale superiore di sx e profonda tasca parodontale. L’escissione chirurgica della lesione è stata effettuata con trattamento laser a diodi e l’esame istologico ha diagnosticato un P.O.F. Discussione e conclusioni A distanza di 24 mesi non son comparse recidive e il parodonto ha presentato una ottima restitutio ad integrum.

Introduction: M.I.D. (mini dental implants) Atlas endosseous implants are single-phase titanium alloy Grade 5 with variable diameter (1,8-2,2-2,4 mm), so that they can be used even in severe bone atrophies. The entry is performed in the interforaminale area with flapless tecnique.The main indication is the stabilization of lower overdentures, very unstable due to various factors such us movements of the tongue and transverse and vertical bone atrophy in the presence of D1 or D2 bone density. M.I.D. for overdenture can be of two types: mini implants with metal ring with a Teflon cap to be fixed in the prosthesis and mini-implants with a ball held in a soft silicone (Tuf-Link) positioned in the undercut run directly in removable dentures (Atlas, Dentatus). Case report: Male patient, aged 56, carrier of lower total dentures has a severe mandibular bone atrophy with excessive instability of the prosthetis. After careful clinical and radiographic assessment, we proceeded to the insertion of Atlas 4 MID 2.4 mm in diameter with flapless technique. The excellent primary stability has allowed the immediate loading of implants by applying the silicone retentive "Tuf-Link " in removal denture. Control at 12 months shows the stability of the prosthesis, the successful osteintegration and the integrity of implants due to the careful management of occlusal loads. Conclusions: Implant System Atlas Implant System has proven to be a microinvasive, atraumatic, reliable and highly predictable

Objectives. Odontomas are the most common odontogenic tumors of the oral cavity. They account for 22-67% of all maxillary tumors with an increased prevalence in children and adolescents. They are asymptomatic and are generally diagnosed by radiographic examination. The chosen treatment is surgical excision of the lesion followed by a histo- pathological examination. The aim of this study is to show confocal laser scanning microscopic features in a case of compound odontoma not easily evident when using an optical traditional microscopy. Methods. A case of bilateral mandibular compound odontoma in young patient is presented. Radiographic analysis revealed two symmetrical radio-opaque masses with a surrounding thin radio-transparent halo, up to the first lower premolars. Surgical excision of the lesion under general anesthesia was performed. The specimens were fixed in a buffered solution of 10% formalin, embedded in paraffin, cut in 3 μm thick serial sections, stained with hematoxylineosin, observed by optical microscope and by Confocal Laser Scanning Microscope (CLSM). Results. Control at 2 weeks showed excellent healing of the tissues. Follow-up at 6 months showed the absence of recurrence and the eruption of the previously retained teeth. CLSM analysis in autofluorescence underlined a different fluorescence of soft and hard tissues showing different intensity of emission in autofluorescence due to different degrees of calcification. The odontogenetic components appeared strongly autofluorescent and presented foci of ectomesenchymal dentinogenetic multifocal differentiation that cause irregularities in the shape and structure of the tissue. Conclusions. Odontomas are frequent in childhood and are often responsible for dental retention. CLSM allows a careful histo-morphological analysis of odontomas and other odontogenic tumors. The morpho-structural organization of the cellular component is also observed with the possibility of three-dimensional reconstruction. References • Crincoli V, Scivetti M, Di Bisceglie MB, Lucchese A, Favia G. Complex odontoma: confocal laser scanning microscopy analysis of a case. Minerva Stomatol. 2007 Nov-Dec;56(11-12):611-20. • Da Silva LF, David L, Ribeiro D, Felino A. Odontomas: a clinico-pathologic study in a Portuguese population. Quintessence Int 2009; 40(1):61-72. • Tamme T, Soots M, Kulla A, Karu K, Hanstein S-M, Sokk A, et al. Odontogenic tumours, a collaborative retrospective study of 75 cases covering more than 25 years from Estonia. J Cranio-Maxillofacial Surgery 2004; 32:161-5.

Hereditary Haemorrhagic Telangiectasia (HHT) is a muco-cutaneous inherited disease. Symptoms are epistaxis, visceral arterio-venous malformations, multiple muco-cutaneous telangiectasia with the risk of number increasing enlargement, bleeding, and super-infection. The aim of this work is to show the dual Diode Laser efficacy in preventive treatment of Early Lesions (EL < 2mm) and therapeutic treatment of Advanced Lesions (AL > 2mm). 21 patients affected by HHT with 822 muco-cutaneous telangiectatic nodules have been treated in several sessions with local anaesthesia and cooling of treated sites. EL preventive treatment consists of single Laser impulse (fibre 320) in ultrapulsed mode (2 mm single point spot). AL therapeutic treatment consists of repeated Laser impulses in pulsed mode (on 200ms / off 400ms). According to the results, Diode Laser used in pulsed and ultra-pulsed mode is very effective as noninvasive treatment both in early and advanced oral and perioral telangiectasia. © 2014 Copyright SPIE

Lymphatic Malformation (LM) according to ISSVA Classification, is a rare benign disorder with unknown aetiology. LM may grow slowly over years or develop rapidly over the course of days becoming a bulky lump, infected or bleeding. We propose our three steps Diode Laser protocol for LM management, based on its persistent vascular blood component. 1. Histological and cytological examination, to evaluate the vascular blood component (10-40%), shows mature lymphocytes with red blood cells and endothelial cells. 2. Diode Laser Photocoagulation (DLP) in pulsed mode (on 100ms / off 400ms) at 10W and 800nm with a 300μm fibre kept 2-3mm from the tissues, to reduce the lesion. 3. Diode Laser surgical excision in pulsed mode (on 50ms / off 200ms) at 8W and 800nm with a 300 μm fibre in close contact with tissues, and histological intraoperative margins control on frozen sections. Even if it has inconstant results (lesions decreasing rate is 10% to 40% proportionally to vascular blood component), DLP simplifies the last and the most important step. Use of Diode Laser also in surgical excision reduces intra and postoperatory complications.

OBJECTIVES: Hashimoto's thyroiditis as well as lichen planus has been associated to a number of disorders, generally of auto-immune origin. A novel possible association between oral lichen planus (OLP) and Hashimoto's thyroiditis (HT) is here proposed on the basis of a cross-sectional survey. MATERIALS AND METHODS: One hundred and five unrelated OLP patients were considered. Diagnosis of HT was based on positive serum anti-TPO, anti-Tg, TSH levels and the typical ultrasound pattern of the thyroid gland. RESULTS: In the present survey, the prevalence of HT in the OLP group was 14.3 % whereas the prevalence of HT-related hypothyroidism in the general population was reported to be equal to 1 %. By Fisher's exact test, it was revealed that the difference between our data and historical prevalence of HT was found statistically significant. CONCLUSION: Actually, there is no definitive hypothesis that could explain the coexistence of OLP and HT. However, considering the onset timing of HT followed by OLP in 93.3 % of our series, we suspected a causal or predisposing role for HT. Specifically, we believe that in HT patients, circulating thyroid antibodies could contribute to trigger an organ-specific auto-immune response also in the oral mucosa or skin, leading to the development of LP lesions. CLINICAL RELEVANCE: Because of the large number of cases of asymptomatic chronic auto-immune thyroiditis, it would be useful that women over 40 years of age affected by OLP were screened for thyroid dysfunction, particularly HT.

Aim: Rapid maxillary expansion (RME) represents one of the most widely used treatment for posterior crossbites. It has been used not only to correct maxillary constriction but also to create additional space in dental arches to relieve crowding, as additional tool in the treatment of III classes and oral breathing. Comparisons between the RME treatment outcome and stability reports usually represent a challenge because studies vary widely regarding sample size, age range, expansion and retention methods used. Contradictory information of long-term stability (0-45%) have been published and this factor is most important for borderline extraction cases. Moreover, we analyze the concurrent behavior of mandible during and after treatment of expansion. Materials and Methods: Thirteen patients (6 males and 7 females; mean age ± DS: 11,69 ± 2,17 years) have been enrolled for this study. All of them presented with a variable degree of crowding sometimes associated with posterior crossbite. They underwent a complete clinical and radiological examination before treatment and, successively, a standardized protocol of RME with two turns a day for about 15 days. The expander was kept on the teeth for 6 months. Dental casts were obtained at three observation times: pretreatment (T1), after removal of expander (T2), 3 (T3) and 12 (T4) months later. The following measurements were made for both maxilla and mandible: inter-canine, inter-premolar and inter-molar width. Results: Distance between upper canine, first premolar and first molar meanly increased 4,2 mm, 5,4 mm and 5,4 mm, respectively from T1 to T2. In the mandible, the increase was 2,4 mm, 1,6 mm and 1,6 mm for inter-canine, inter-premolar and inter-molar width respectively. At T3, upper inter arch width decreased of 17% (0,7 mm), 9% (0,5 mm) and 20% (1,1 mm) while, al T4, the decrease was of 24% (1 mm), 26% (1,4 mm) and 26% (1,4 mm) respectively for canine, premolar and molar width. Discussion: Treatment with RME presented good stability for upper inter-canine, inter-premolar and inter-molar widths, showing a recurrence rate of only 24-26% in 12 months. Recurrences was mostly present in the first 3 months for canines and molars. Apparently, the mandible showed a concurrent expansion without treatment which was larger for canines (2,4 mm) than premolars and molars (1,6 mm). Conclusions: Although RME was unanimously considered to have predictable results, it usually showed a variable rate of recurrences. They should be always considered in the orthodontic plan. Iper-correction and contention seems to be important to prevent recurrence

Abstract AIM: Our objective was to investigate the occurrence of sleep-related breathing disturbances in a large cohort of school-aged children in Southern Italy, and to evaluate the association with anthropometric data and clinical findings of oropharynx and nasal airways. Study design: A two-phase cross-sectional study was conducted with children from schools in Turi, Italy. MATERIALS AND METHODS: A screening phase aimed to identify symptomatic children and clinical data from a cohort of 495 children by a self-administered questionnaire, and an instrumental phase for the definition of sleep-related disorders and clinical analysis of oral status were performed. According to the answers, children were classified into 3 groups: habitual snorers, occasional snorers, and non-snorers. All habitual snoring children underwent a polysomnographic home evaluation, and those with oxygen desaturation index (ODI) > 2 were considered for nocturnal polygraphic monitoring (NPM). Children with apnoea/ hypopnea index (AHI) > 3 received a diagnosis of obstructive sleep apnoea syndrome (OSAS). Moreover, a complete oral examination was performed. RESULTS: A total of 436 questionnaires (response rate: 88.08%) were returned and scored (202 M, 234 F; Mean age ± Standard deviation: 6.2 ± 1.8); 18 children (4%) were identified as habitual snorers, 140 children (32%) were identified as occasional snorers, and 278 children (64%) were identified as non-snorers. The percentage of female children who were habitual snorers was higher than the percentage of male children (4.7% vs 3.6%). Habitual snorers had significantly more nighttime symptoms. OSAS was diagnosed in 2 children by NPM. A statistically significant association between snoring, cross-bite, open-bite and increased over-jet was found. CONCLUSION: Habitual snoring and OSAS are significant problems for children and may be associated with diurnal symptoms. The presence of malocclusion increases the likelihood of sleep-related breathing disturbances.

Cervico-facial actinomycosis is an infectious, suppurative, and granulomatous disease due to Actinomyces species. Usually, the diagnosis is confirmed by microbiological cultures; however, the need for careful anaerobic handling of specimens often makes it difficult to obtain an effective microbial growth. Therefore, we conducted a retrospective study on biopsy samples from patients with a clinical suspicion of cervico-facial actinomycosis, in order to determine whether accurate histopathological examination could reliably confirm the diagnosis. A retrospective revision of formalin-fixed, paraffin-embedded archival material from 68 cases of cervico-facial lesions, with negative culture for anaerobic/microaerophilic microorganisms, was performed. Twelve serial sections for each case were cut from the paraffin blocks, individually collected on positively charged slides to obtain good section-to-slide adhesion, and stained with hematoxylin and eosin (H&amp;E) and periodic acid-Schiff (PAS). Histopathological examination of the serial sections allowed the identification of bacterial colonies consistent with actinomycetes in 22 cases (32 %). The proposed histopathological examination allowed the retrospective diagnosis of cervical actinomycosis in one-third of clinical specimens that remained misdiagnosed following traditional H&amp;E examination.

Objective: We report on a case of Tuberous Sclerosis (TS) with gingival angiofibromatosis (GA), diagnosed by histopathological analysis with Confocal Laser Scanning Microscopy (CLSM) and treated with High-Power Diode Laser gingivectomy. Case presentation: The patient underwent gingivectomy and gingivoplasty with High-Power Diode Laser in pulsed modality and the surgical sample was formalin-fixed, paraffin-embedded and stained with hematoxylin-eosin and Pricrosirius red. Results: Microscopically, thickened acanthotic epithelium with elongated rete ridges, densely packed, whorly collagen fibers, fibroblasts, variably sized vascular structures, and a few chronic inflammatory cells were detected. At CLSM examination, (Nikon Eclipse E-600 with green/red Laser inducing fluorescence) the collagen fibers, showing intense fluorescence, also manifested variable spatial orientation, due to cross-links among the bundles, ad typical of fibromatosis. Also, variably sized blood vessels and large and polygonal interstitial cells displayed fluorescence of lower intensity. The vascular component consisted of small groups of venous-like structures, frequently showing dilated lumina, thin walls and plump endothelial lining. Conclusions: The histopathological analysis with CLSM of GA occurring in TS highlightes distinctive features, such as low fluorescence areas and a typical vascular component which may represent distinctive features of such lesion.

Turner syndrome is a genetic disorder characterized by the total or partial absence of the X chromosome. There are different types of karyotypes although the most frequent is the 45X (57%). Mosaicisms such as 46 XX/45X, 45X/46XX/47XXX (29%), the presence of the isochromosome X or the chromosome X-ring (14%) may occur. The main clinical features are: short stature, gonadal dysfunction, congenital heart disease, renal and skeletal anomalies, endocrine disorders and hypoplasia of the fingernails and toenails. Craniofacial features are due to retarded development of the cranialfacial complex with reduced growth of the skull base, hypertelorism, retrognathic profile, maloclussion Class II (60%), hypoplasia of the maxilla, bilateral cross-bite (9%) with or without cleft palate, anterior open bite (17%). The teeth are altered in shape and structure. A patient AA 9 years old, suffering from Turner syndrome karyotype 45Xq; the Rx OPT has highlighted the presence of agenesis of 2.2 and a mesiodens in the region between the upper central incisors with the inclusion of 1.1. We proceeded to the extraction of the pre-orthodontic mesiodens and subsequent orthodontic treatment for the correction of Class II malocclusion. The mesiodens, fixed in formalin, decalcified, and half was embedded in paraffin and stained with hematoxylin-eosin and half including resin-ground sections. Histological examination to the confocal laser scanning microscopy showed: - Alternation of zones of hypo and over calcification; - Inhomogeneous structure of dentin and abnormalities of the dentinal tubules; - Reduced enamel thickness and irregular arrangement of the striae of Retzius. - The pulp and root systems are characterized by the presence of foci of ectomesenchymal dentinogenetic multifocal differentiation that cause irregularities in the shape and structure of the root by an irregular, neoplastical-like growth (odontoma-like).