Rare diseases: a challenge in paediatric dentistry.

Rare diseases are an often an overlooked public health problem. Although they are infrequent, occurring on average in 100-500 people per million, these diseases represent a significant challenge in paediatric dentistry due to their complex manifestations and the need for specialised care. Conditions such as X-linked hypophosphatemic rickets (XLH), hypophosphatasia (HPP), and osteogenesis imperfecta (OI) exemplify the intersection of systemic health issues and oral health, requiring a multidisciplinary approach for their effective management. Dentists frequently play a crucial role in identifying genetic alterations through their dental manifestations and then referring patients to the geneticist for a definitive diagnosis. X-linked hypophosphatemia is the most common genetic form of rickets, with a prevalence of 1/20,000 - 1/60,000. XLH is characterised by stunted growth with disproportionate short stature, bowing of the lower limbs associated with reduced motor skills, osteoarticular pain, hypotonia, and dental and periodontal anomalies. XLH is due to inactivating mutations in the PHEX gene which cause excessive production of fibroblast growth factor 23 (FGF23). Increased concentration of FGF23 represents the main pathogenetic mechanism of XLH, stimulating urinary phosphate loss and renal 24-hydroxylase activity, and reducing renal 1α-hydroxylase activity with insufficient production of 1,25 -dihydroxy-vitamin D (1,25(OH)2D). PHEX protein is also expressed in osteoblasts, osteocytes, and odontoblasts. Regardless of FGF23's systemic effects on phosphate homeostasis, odontoblast differentiation, and dentin formation, its overexpression directly reduces osteoblast differentiation and matrix mineralisation. In patients with XLH, the deficit of 1,25(OH)2D induced by FGF23 causes poor enamel mineralisation with presence of cracks on teeth surface. XLH patients have recurrent dental abscesses with fistulas. Radiographic investigations highlight a generalised enlargement of the pulp chambers, molars with short roots, and a taurodontic appearance. Hypophosphatasia (HPP) is another condition in which dental manifestations precede systemic symptoms; it is a rare genetic disease (1/300,000 for severe forms, 1/100,000 for moderate forms. The incidence is perhaps underestimated due to missed diagnosis of moderate forms of the disease). It mainly affects bone and dental mineralisation. It is caused by pathogenic variant mutations in the ALPL gene which is located on the short arm of chromosome 1 and encodes the non-tissue-specific alkaline phosphatase (TNSALP) enzyme. TNSALP deficiency results in vitamin B6 (pyridoxine) deficiency and pathological accumulation of alkaline phosphatase substrates which may be responsible for extra-osseous manifestations, such as neurologic ones (pyridoxine sensitive seizures) as well as involvement of muscles and joints (arthropathies, muscle fatigue/hypotonia). Early non-traumatic loss of primary teeth between the ages of 2 and 4 years (and sometimes earlier) with an intact, non-resorbed root is a sign of disease. Tooth mobility precedes exfoliation of the tooth/teeth, most often without associated gum inflammation or pain. The primary incisors are the most affected teeth, and the number and type of primary teeth lost are proportional to the severity of the disease. From a radiologic perspective, characteristic signs include localised or generalised horizontal alveolar bone loss, large pulp chambers, intrapulpal calcifications, and reduced enamel thickness. Osteogenesis imperfecta, or brittle bone disease, is a rare condition characterised by bone fragility and osteopenia. It combines skeletal signs of varying severity (mainly fractures, hyperlaxity, and ligament deformities) and extra skeletal signs (bluish sclera, deafness, vascular fragility). It may also involve dentinogenesis imperfecta. The severity of clinical manifestations is highly variable, ranging from moderate forms that can go unnoticed to major forms that are lethal in the perinatal period. The birth prevalence of osteogenesis imperfecta is approximately 1 in 10,000 people. In approximately 90% of cases, it is an autosomal dominant disease due to monoallelic mutations in the COL1A1, COL1A2 or IFITM5 genes. Ten percent of cases are recessive forms characterised by dentinogenesis imperfecta, where the dental manifestations include teeth discoloration and weakness. The timely recognition of dental manifestations of these rare genetic diseases can allow providers to make an early diagnosis even prior to the development of systemic complications, and for this reason paediatric dentists have a key role in the recognition and management of these patients. Once the diagnosis is suspected, the dentist should refer patients for a genetic evaluation so as to ensure multidisciplinary management and initiation of medical therapies with the collaboration of paediatricians, endocrinologists and other health specialists. The role of dental professionals is not limited to the diagnosis of these rare diseases, but it also encompasses delivering specific, patient-tailored treatments, encouraging preventive care with regular dental visits and educating patients with the ultimate goal to promote not only oral health but the patient's overall wellbeing.

Treatment options of periapical cysts of deciduous teeth: report of a case and systematic review of the literature.

AIM: Periapical cysts of primary teeth are pathologic entities which are seldom encountered in the clinical practice. Most frequently, these lesions arise in correspondence with primary teeth presenting previous pulp therapy, severe carious lesions, or a history of previous trauma. The aim of the present study is to systematically review the treatment modalities of periapical cysts of the deciduous, along with the reporting of a clinical case. MATERIALS: A case of periapical cyst treated with marsupialization occurring in an 11-year-old patient is described. A literature search was devised to retrieve studies reporting the treatment of periapical cysts, and involved papers published in the Cochrane Oral Health Group specialist trials, MEDLINE via PubMed, and EMBASE up to March 2023. A total of 39 articles were retrieved. Following title and abstract analysis, 27 articles were selected for full-text analysis, with the final inclusion of 24 articles. CONCLUSION: Periapical cysts of primary teeth present an overall good prognosis irrespective of the treatment option adopted. The performance of a prompt diagnosis appears of utmost importance, as the extraction of the primary teeth involved implies the management of the residual space for the correct positioning of the corresponding permanent teeth.

The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.

Hypophosphatasia (HPP) is a rare genetic disorder in which pathogenic variants of the ALPL gene lead to a marked decrease of tissue non-specific alkaline phosphatase (TNSALP) activity. Although HPP is a systemic disorder, its clinical manifestations are more evident on bones, teeth, muscle and central nervous system. The clinical spectrum ranges from severe forms with extreme skeletal deformities, respiratory impairment, seizures, to very mild forms with onset in late adulthood and few clinical signs. The diagnosis can be suspected by measurement of TNSALP activity, but the insufficient awareness among health professionals and the lack of official guidelines are responsible for delayed diagnosis in children with HPP. The purpose of the current document is to provide an expert opinion directed at optimizing the diagnostic pathway of pediatric HPP. From April to December 2022, a multidisciplinary working group of 6 experts including two pediatric endocrinologists, a pediatric neurologist, a pediatric odontologist, a clinical geneticist, and a molecular biologist gathered in a series of periodic meetings to discuss the main issues related to the diagnosis of HPP in children and formalize an Expert Opinion statement. The experts agreed on a diagnostic trail that begins with the recognition of specific clinical signs, leading to biochemical analyses of TNSALP activity and vitamin B6 serum concentration. Very important are the neurological and dental manifestation of the disease that should be thoroughly investigated. The evaluation of TNSALP activity must consider sex and age variability and low activity must be persistent. Repeated blood measurements are thus necessary. The molecular analysis is then mandatory to confirm the diagnosis and for genetic counseling.

Oral manifestations in paediatric patients with hepatobiliary diseases: a review.

It is well known that greenish pigmentation of the teeth is seen in children following remission of severe jaundice and clinical and serum bilirubin, a degradation product of haemoglobin, may be permanently trapped in forming dental hard tissues causing discolouration and enamel and dentine hypoplasia. Neonatal jaundice is the most common cause of hyperbilirubinemia and pigmentation of the deciduous teeth is the consequence of this condition. Various hepatobiliary pathologies may have a clinical finding in the oral cavity; furthermore, oral manifestations of hepatic pathologies are not just limited to the pigmentation of the deciduous teeth but also the permanent dentition and the mucous membranes can be affected.

Facial growth and morphology of cleft lip and/or palate patients after corrective surgery according to P.I.S.A. technique.

Cleft lip and/or palate patients (CLP) undergo corrective surgery that can affect facial growth. The aim of this study was to analyze facial growth and maxillary development of CLP subjects after surgery according to P.I.S.A. technique (Peri osteoplasty Improves Symmetry and Aesthetic). Cephalometric tracings of 55 patients were performed, thirty-three of which belonged to the test group, while the lasting twenty subjects were part of the control group. The test group was formed by cleft lip and/or palate patients after surgical repair according to P.I.S.A. technique. The control group included patients unaffected by this malformation, with an Angle's first class, selected from the Michigan Growth Study sample. Facial growth and upper maxilla development analysis was carried out by comparing the data obtained from the cephalometric traces of cleft patients who performed an early surgery, with the values of the same parameters measured in non-cleft subjects, providing the normal values. The results of this study showed, in the test group, a maxillary and mandibular bi-retrusion, a more negative facial convexity, the absence of a marked discrepancy in the skeletal relationships, a slight tendency towards hyper-divergence. .

Impact of Sjögren's syndrome on oral health and quality of life: an observational cross-sectional study.

Sjögren's Syndrome is a complex disease, due to an autoimmune physiopathology, that strongly impacts both patients' primary needs (nutrition and speaking), and patients' relationship life related factors (psychological health and quality of life). In Literature, few studies had investigated oral health status in Sjögren's syndrome and its impact on patients' quality of life, so the aim of this study was to analyse that issue. 30 patients were enrolled, within the Department of Rheumatology (University of Pisa), both first diagnosis patients' and both patients who had been diagnosed with Sjögren's syndrome in the past. For each patient, a medical record was filled out together with the compilation of the Oral Health Impact Profile questionnaire. Then, during a specialistic rheumatologic visit, Sjögren's Syndrome Disease Damage Index Score (SSDDI) was determined. Results showed a direct proportion between years from diagnosis and severity of oral health issues. It was found that these issues were related to soft tissue damage and an overall worse, reported quality of life and psychological health.

Use of extra-oral scanner for the study of arch form in a sample of Italian adolescents with ideal occlusion.

The aim of this study was to evaluate the shape and the average size of the maxillary and mandibular arch in an Italian adolescents' sample with correct occlusion, using the digital technology. The study sample was composed, after the use of an extra-oral scanner and after the application of inclusion and exclusion criteria, by the digitized dental casts of 79 Italian adolescents (39 females and 40 males), aged 14±1 years, with correct occlusion. On each model, both upper and lower, the reference points of the dental arches (FA), of the alveolar bone (WALA ridges) and of the incisal edge of the central incisors were identified. With these points, using a software, fourteen parameters were evaluated for each cast: basal and dental intermolar and inter-canine width, basal and dental molar and canine depth, basal and dental molar and canine ratio, overjet, overbite. Finally, the shape of the arches was assessed, dividing it into ovoid, triangular or square. Chi-square test and Student's T-test for each parameter were adopted with a p<0,05 significance level. The results showed that the ovoid form was the most frequent, followed by the triangular one for the upper arch and by the rectangular one for the lower arch. On the canine level, both upper and lower, both for dental and for basal references, the triangular shape showed the lowest width and ratio values and the highest depth values in comparison with the other two groups. The square one showed the opposite situation, and the ovoid one presented in the intermediate value. On the molar level the trend is quite similar to the canine one. The results obtained maybe suggest that on a significant percentage of the patients of the sample is expected to use a preformed ovoid arch wire, and the data found could be useful to study the adequacy of the arch wires currently on the market or to design new ones. .

Effects of audiovisual distraction in children with Down syndrome during dental restorations: a randomised clinical trial.

AIM: To evaluate the effect of audiovisual distraction on the dental chairside behaviour of children with Down syndrome (DS) during dental restorations and its influence on the operator stress and the duration of the appointment. MATERIALS AND METHODS: Study design: This randomised controlled trial included 48 children with DS requiring dental restorations. The study group was treated while wearing video eyeglasses, the control group with conventional behaviour management techniques. The child behaviour was evaluated using the revised Face, Leg, Activity, Cry, Consolability scale (r-FLACC) and the Frankl scale. The operator stress was evaluated using a VAS scale and the duration of the appointment was recorded. RESULTS: In the study group 64% of the children refused to wear the video eyeglasses during the whole duration of the dental treatment, the median r-FLACC score was significantly higher (p= 0.01552; Mann Whitney U test) and significantly more children showed a negative behaviour (68%vs 30%: p =0.011; Chi-square test). CONCLUSION: Audiovisual distraction using video eyeglasses is not useful in managing the dental chairside behaviour of children with DS.

State-of-the-art on MIH. Part. 1 Definition and aepidemiology.

Molar incisor hypomineralization (MIH) is one of the most pressing issues in paediatric dentistry. It is a qualitative enamel defect of systemic origin that affects at least one first permanent molar and can also be associated with permanent incisors. However, the same defects have also been observed on primary molars and other permanent teeth. Hypomineralised enamel has less distinct prisms edges and crystals and the interprismatic space is more marked. Children with MIH undergo dental treatment nearly 10 times more than unaffected children. Preventive treatment following the diagnosis of MIH should take into account patient's age and collaboration, patient's caries risk, type and extension of demarcated lesions and hypersensitivity. Risk assessment and early diagnosis are key factors to an effective and conservative treatment.

Allergic manifestations to local anaesthetic agents for dental anaesthesia in children: a review and proposal of a new algorithm.

AIM: The purpose of this review was to evaluate allergic manifestations to dental local anaesthetic (LA) in children and to propose an algorithm for the diagnosis of LA allergy, in order to minimise the number of children who are wrongly categorised as allergic. MATERIALS AND METHODS: A comprehensive literature survey was performed on LA allergy in children before a dental treatment. In proposing a diagnostic algorithm, evidences from literature have been integrated with personal experience. RESULTS: Data from literature showed that overall less than 1% of young patients tested for suspected LA have a positive subcutaneous test and have a positive diagnosis. A complete diagnostic procedure should include: clinical history reported by patients, objective medical records, results of skin tests and provocation test with the suspected drug. Patients with negative skin tests should perform a subcutaneous challenge, while patients with a positive skin test should be tested for a different unrelated LA. CONCLUSION: Allergy to LA is a rare condition. A complete diagnostic algorithm will allow to identify paediatric patients correctly.

Longitudinal study on the effect of oral hygiene measures on the salivary count of microbial species with cariogenic potential.

The effect of oral hygiene education measures and professional tooth cleaning on the salivary levels of microbial species with high cariogenic potential (i.e. Streptococcus mutans, Lactobacillus spp. and Candida albicans) was evaluated at different time points. At time 0, high salivary carriage rates were recorded in the study group (n=30). Fifty percent of the subjects harbored all three species in their saliva, 27% harbored 2 species, and 23% only one species. At 3 months after oral hygiene measures, a statistically significant reduction was observed in salivary count of S. mutans and Lactobacillus spp. The percentage of subjects harboring all three species was also highly reduced, along with an overall improvement of clinical and risk factors parameters. At 8 months after oral hygiene measures, S. mutans and Lactobacillus spp. load was still statistically lower than that recorded at time 0, although an increment in bacterial load and a partial worsening of clinical and risk factors parameters were observed. S. mutans count in saliva inversely correlated with salivary pH, while it positively correlated with C. albicans salivary levels. The results obtained suggest that strengthening of the motivation and administration of oral hygiene instructions and professional tooth cleaning every 6-8 months, might be necessary to control salivary levels of cariogenic species.

Interdental plaque reduction after use of different devices in young subjects with intact papilla: A randomized clinical trial.

OBJECTIVES: To determine the efficacy of 4 different oral hygiene regimens involving adjunctive interdental cleaning devices in unsupervised young subjects with intact interdental papilla. MATERIAL AND METHODS: Sixty periodontally healthy subjects were randomly allocated to 4 groups following different oral hygiene regimens (T-7): use of manual toothbrush alone; manual toothbrush plus dental floss; manual toothbrush plus interdental brushes; and manual toothbrush plus rubber interdental picks. Oral hygiene instructions (OHI) were given. One week after (T0), professional supragingival scaling and polishing was performed, and subjects were then reseen every 2 weeks (T14 and T28). At T-7, T0, T14 and T28, full-mouth plaque score (FMPS), full-mouth bleeding score (FMBS) and angulated bleeding index (AngBI) were taken. RESULTS: During the first week (T-7/T0 unclean phase), FMPS decreased significantly in all groups except the group using dental floss. At T28, a significant decrease in FMPS (P < .001, all groups) and FMBS (P < .05, all groups except the group using flossing P < .001) was noted. Interdental FMPS showed significantly lower values in subjects treated with interdental brushes or rubber interdental picks vs toothbrushing alone (P < .05). The use of interdental picks was associated with reduced interdental FMBS when compared to flossing (P < .05). CONCLUSION: In young subjects, with no interdental attachment loss, toothbrushing or toothbrushing and adjunctive interdental cleaning devices such as dental floss, interdental brushes or interdental rubber picks can significantly reduce both plaque and gingival inflammation. Use of interdental brushes or rubber picks reduces more interdental plaque in comparison with toothbrushing alone.

Craniofacial morphology in pediatric patients with Prader-Willi syndrome: a retrospective study.

OBJECTIVE: To investigate craniofacial characteristics in pediatric patients with Prader-Willi syndrome (PWS). SETTING AND SAMPLE POPULATION: A retrospective sample of 20 consecutive patients with PWS who had lateral and antero-posterior (AP) cephalograms (14 males and six females; average age 10.2 ± 3 years) was compared to 20 controls matched for age and sex (14 males and six females; average age 10.5 ± 3.7 years). MATERIALS AND METHODS: Cephalometric skeletal measurements were performed twice at a 1-week interval by one calibrated operator, and random error was calculated using Dahlberg's formula. Mean values and standard deviations were computed for all variables. Student's t-test for independent samples was used to determine significant differences between PWS and controls. The level of significance was set at p < 0.05. RESULTS: Cephalometric values for the length of the maxilla (p < 0.01), mandibular length (p < 0.05) at both the ramus (p < 0.05) and the mandibular body (p < 0.01), and posterior and anterior facial height (p < 0.01) were significantly lower in patients with PWS compared to controls. The AP cephalometric analysis revealed a significant reduction (p < 0.01) in maxillary skeletal width, mandibular skeletal width, and interzygomatic distance. CONCLUSIONS: Pediatric patients with PWS seem to have a general reduction in certain craniofacial skeletal parameters (i.e., maxillary and mandibular length) compared to controls, but this study did not assess the overall craniofacial characteristics.

Familial and dietary risk factors in Early Childhood Caries.

AIM: To evaluate the causes of Early Childhood Caries. STUDY DESIGN: A statistical comparison of two groups of patients, aged between 3 and 6, and their parents, in the 3-year period 2013-2015 was performed. Two groups of patients were selected: 40 children with early childhood caries (ECC group) and 40 children with no decay (controls). Parents were asked to fill out a questionnaire on food habits, oral hygiene habits, fluoride prophylaxis and family history of caries. A dental visit of children and parents was performed (collection of dmft and DMFT index). The saliva features of the two groups of children (concentration of Streptococcus mutans, pH of the oral cavity and buffer capability of stimulated saliva) were examined by means of salivary tests. The distribution of the population was analysed and parametric and non-parametric tests for continuous and non-continuous variables, were used when appropriate. The statistical significance was set at p > 0.005. RESULTS AND STATISTICS: The average age, gender and BMI index of children of the two groups was similar. The difference between the two groups is statistically significant for pH (p=0.000) and buffer capability (p=0.001). The DMFT index in the group of mothers of ECC children is higher compared to the mothers of controls (p=0.004). The comparison among the means, for the parameters connected to the consumption of fruit juice, tea, soft drinks, candies, use of pacifier dipped in sugar or honey and the length (in months) of consumption of candies show statistically significant differences (p>0.05). The pH is higher in those children (24) who never consumed fruit juice, tea, soft drinks before the information received (p<0.05). CONCLUSIONS: Children developing Early Childhood Caries have a diet characterised by high free sugars intake. Diet and, in particular, the consumption of drinks containing free sugars is the most important factor in determining the onset of ECC, being able to affect the oral environment and, in particular, saliva. There is a relationship between maternal and child's oral health, with a DMFT higher in mothers of ECC subjects than in controls' mothers.

Black Stains: a microbiological analysis and a view on familiarity and susceptibility to tooth decay of patients in childhood.

AIM: Assess prevalence, familial predisposition and susceptibility to caries of Black Stains (BS). Evaluate the microbiological composition of BS, saliva and subgingival plaque. MATERIALS AND METHODS: Sixty nine subjects with BS (test group) and 120 subjects without BS (control group) were analysed for oral status. For each BS-patient, a BS-deposit, 1 ml of saliva and subgingival plaque were collected and microbiologically analysed. Five deciduous teeth with BS were observed under SEM. RESULTS: This study showed a BS prevalence similar to that of the Mediterranean area and a familiality. The microbiological origin of BS was confirmed by SEM and culture method and the BS flora differ from that of supragingival plaque. CONCLUSIONS: Predominance in BS and saliva of Actinomycetes and the low salivary prevalence of S. mutans and L. acidophilus may be related with low caries incidence in BS patients. The high presence of Actinomyces spp can be a causative factor for BS.