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Anhidrotic ectodermal dysplasia (AED), or Christ-Siemens-Touraine syndrome, is an X-linked recessive dermatosis. Rare in incidence, it affects 1 in 100,000 births, mostly boys. Through this observation, we detail the clinical signs that led us to suspect the diagnosis, how this pathology was confirmed, and the therapeutic management we carried out. We present a case of a 10-month-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, and tear glands. He also had complete anodontia and a dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. Although Christ-Siemens-Touraine syndrome is a rare condition, it is vital to recognize it early to improve care and prognosis for these patients, while mitigating the psychological impact of the condition on both children and parents.

BACKGROUND: This study aims to evaluate the prevalence of malocclusion and orthodontic features among schoolchildren in the West Bank, Palestine.
METHODS: A stratified cluster sample of 1278 schoolchildren (620 males, 658 females, mean age 12 years and 5 months (± 0.5)) were examined. Candidates who had not received any previous orthodontic treatment were only included. Dental anomalies like missing and ectopic teeth were recorded. The anteroposterior occlusal relationship was assessed based on Angle classification. Overjet and overbite were measured. Crowding and spacing were recorded subjectively. In addition, crossbite, openbite, and midline displacement were recorded. The chi-square test and descriptive analysis were used statistically.
RESULTS: The study found Angle Class I molar relationship in 65%, Class II div 1 in 17%, Class II div 2 in 6%, and Class III in 12% of the sample. An overjet (OJ) of more than 4 mm was present in 17%, and 4% had OJ of more than 6 mm; an OJ of at least 0 mm or less in 36%, and 6% had a reverse OJ. A normal overbite was observed in 53%, while 28% had an increase and 19% had a decreased overbite. An anterior openbite (AOB) was present in 9%, and a scissor bite or anterior crossbite in 6% and 14%, respectively. A posterior crossbite was observed in 12% (9% unilateral and 3% bilateral). Midline displacement was found in (9%). Crowding was observed in 35% and 31% and spacing in 24% and 15% of the maxillary and mandibular arches, respectively. A statistically significant relationship between gender and midline shift, a diastema, spacing in the upper arch, and most dental anomalies was found; males were more affected (p < 0.05).
CONCLUSIONS: This study reported a high prevalence of malocclusion among schoolchildren in Palestine. A collaborative effort should be directed to obtain more monitoring and surveillance of malocclusion more frequently to prevent and control the exacerbation of the problem.

The primary aim was to investigate survival rate of zirconia versus metal abutments, and the secondary aim was clinical outcomes of all-ceramic versus metal-ceramic crowns on single-tooth implants.
Patients with tooth-agenesis participated to previously published prospective clinical study with 3-year follow-up were recalled after 5 years. Biological variables included survival and success rate of implants, marginal bone level, modified Plaque and Sulcus Bleeding Index and biological complications. Technical variables included restoration survival rate, marginal adaptation and technical complications. The aesthetic outcome of crowns and peri-implant mucosa in addition to patient-reported outcome were recorded. Descriptive analysis, linear mixed model for quantitative data, or generalized linear mixed model for ordinal categorical data were applied; significance was set to 0.05.
Fifty-three patients (mean age: 32.4 years), with 89 implants participated to the 5-years examination. The implants supported 50 zirconia abutments with 50 all-ceramic (AC) crown and 39 metal abutments with 29 metal-ceramic (MC) and 10 AC crowns. The Implant and restoration survival rate was 100% and 96%, respectively. No clinically relevant biological difference between implants supporting metal or zirconia abutments was registered. The technical complications were veneering fracture of AC-crowns (n = 3), crown loosening of MC-crowns (n = 4) and one abutment screw loosening (MC-crown on metal abutment). MC-crowns had significantly better marginal adaptation than AC-crowns (p = .01). AC-crowns had significantly better color and morphology than MC-crowns (p = .01).
Zirconia-based single-tooth restorations are reliable alternative materials to metal-based restorations with favorable biological and aesthetic outcome, and few technical complications.

It is incumbent upon our profession to reevaluate our preference for routinely replacing a missing single maxillary incisor, especially a maxillary lateral incisor, with a dental implant in a young adult. The dental literature is replete with beautiful restorative results using implants in this area, but there is minimal discussion regarding the long-term consequences of this treatment. The maxillary lateral incisor is one of the most commonly missing teeth due to agenesis, and it is also one of the most common teeth to be lost due to trauma in the developing child.1 Therefore, the decision for replacement must be made with the long-term in mind, as these restorations are commonly placed between ages 18 and 21 and must serve the patient for many decades. There are several reasons that implants can be associated with complications or even fail, including the following: (1) Continued craniofacial growth, which has a predominant anterior and vertical component and has been shown to occur in the maxilla, resulting in the apparent submersion of the implant crown as the natural teeth move incisally in relation to the implant2,3-there is no evidence that this can be predicted, let alone how far into the future it may happen; (2) peri-implantitis, which has a patient-level prevalence estimate of nearly 25% according to the findings of a recent systematic review;4 (3) thinning and recession of the peri-implant mucosa due to poor implant placement, inadequate prosthetic management, and/or poor case selection, often resulting in compromised esthetics and a predisposition for the onset and progression of peri-implant diseases; and (4) mechanical failure of the implant, abutment screw, transmucosal abutment, and/or crown. Clinicians should also keep in mind that, once an implant is placed in the anterior maxilla, it precludes the possibility for palatal expansion in the adult patient because the space created by the expansion cannot be redistributed orthodontically. Canine substitution is one traditional method for replacement of the missing maxillary lateral incisor. It is still a viable option when the canine tooth has an acceptable shape and color, and the occlusion will not be compromised by the substitution.5 Additionally, the bonded single-wing zirconia bridge has become a primary treatment option.6 Zirconia has the strength of metal and beauty of porcelain, which makes it an ideal substrate for a bonded bridge. The literature has demonstrated the long-term success of this replacement option for the missing maxillary incisor.7 There are clearly many potential long-term disadvantages associated with replacing a single missing maxillary incisor with an implant in young adults. We should be prescribing the least-invasive treatment option for the replacement of these teeth. Therefore, when treatment-planning for a missing maxillary incisor in a young adult, alternatives to implant therapy-such as the bonded single-wing zirconia bridge and canine substitution-should be the primary treatment options. The implant should only be considered as a secondary treatment when the other options are not viable or have previously failed.

BACKGROUND: MSX1 sequence variants have been known to cause human tooth agenesis (TA) with or without orofacial clefts. However, their roles during the whole processes of tooth development are not fully understood. This study aimed to characterize a 4-membered family with TA carrying a novel MSX1 pathogenic variant and investigate the disease mechanism.
METHODS: The authors conducted whole exome analysis to define the disease-causing sequence variant. They performed microcomputed tomography, morphometric analyses, transcriptome profiling, and molecular characterization to study the affected teeth and the gene variant.
RESULTS: The authors identified an MSX1 pathogenic variant, p.Glu232∗, in affected family members with TA and concomitant orodental anomalies, namely, prominent maxillary labial frenum, central incisor diastema, median maxillary anterior alveolar cleft, tooth fusion, mandibular molar dysmorphology, thin dentin layer, and slender dental roots. MSX1-defective teeth were not apparently microdontic but had thin dentin layers. The mandibular molars showed a homeotic transformation to maxillary counterparts. Genes involved in extracellular matrix organization and dentinogenesis, such as DMP1 and MMP20, were downregulated in dental pulp tissues of MSX1-defective teeth. The p.Glu232∗-truncated MSX1 properly localized to the nucleus but partially lost its transactivation ability. Analyzing reported cases indicated that truncation sequence variants within the homeobox domain of MSX1 caused a more severe TA phenotype than those outside of the homeobox domain, probably due to dominant negativity compared with haploinsufficiency.
CONCLUSIONS: This study provides in vivo evidence that MSX1 contributes to developmental processes of various orodental tissues in humans.
CONCLUSIONS: Clinically, hypertrophic labial frenum, incisor diastema, and median maxillary anterior alveolar cleft might be considered diagnostic for MSX1-associated TA.

OBJECTIVE: This cross-sectional study investigated the association between fungiform papillae (FP) numbers and tooth number anomalies in children, considering variables related to hypodontia and hyperdontia. The aim was to explore this association while adjusting for age and sex differences.
METHODS: A total of 144 children (aged 8-10) were categorized into hypodontia (n = 48), hyperdontia (n = 48), and control groups (n = 48). Clinical and radiographic diagnoses were used to classify tooth number anomalies. Hypodontia was categorized by number and location, while hyperdontia was categorized by number, shape, and location. FP were assessed using the Denver Papillae Protocol. Data analyses were performed using NCSS software, with p < 0.05 considered statistically significant.
RESULTS: The hypodontia group (22.5 ± 8.4) exhibited significantly lower FP than the control group (30.4 ± 9.2) and the hyperdontia group (27.9 ± 7.8) (p < 0.0005, p = 0.003, respectively). No significant difference existed between the hyperdontia and control groups. FP numbers in hypodontia subgroups showed no significant differences based on teeth agenesis numbers or locations. Similarly, hyperdontia subgroup analyses revealed no significant differences in FP numbers based on supernumerary teeth shapes (supplemental, conical, tuberculoid, paramolar) or the numbers of supernumerary teeth.
CONCLUSIONS: The lower FP numbers in children with hypodontia suggested an association between teeth and FP number. However, the non-significant difference in FP numbers with hyperdontia underscored the complexity of tooth development, warranting further investigations.
CONCLUSIONS: Children with hypodontia may exhibit distinct FP numbers compared to those without tooth number anomalies.

OBJECTIVE: Coffin-Siris Syndrome (CSS) is a congenital disorder characterized by delayed growth, dysmorphic facial features, hypoplastic nails and phalanges of the fifth digit, and dental abnormalities. Tooth agenesis has been reported in CSS patients, but the mechanisms regulating this syndromic tooth agenesis remain largely unknown. This study aims to identify the pathogenic mutation of CSS presenting tooth genesis and explore potential regulatory mechanisms.
METHODS: We utilized whole-exome sequencing to identify variants in a CSS patient, followed by Sanger validation. In silico analysis including conservation analysis, pathogenicity predictions, and 3D structural assessments were carried out. Additionally, single-cell RNA sequencing and fluorescence in situ hybridization (FISH) were applied to explore the spatio-temporal expression of Sox4 expression during murine tooth development. Weighted Gene Co-expression Network Analysis (WGCNA) was employed to examine the functional role of SOX4.
RESULTS: A novel de novo SOX4 missense mutation (c.1255C > G, p.Leu419Val) was identified in a Chinese CSS patient exhibiting tooth agenesis. Single-cell RNA sequencing and FISH further verified high expression of Sox4 during murine tooth development, and WGCNA confirmed its central role in tooth development pathways. Enriched functions included cell-substrate junctions, focal adhesion, and RNA splicing.
CONCLUSIONS: Our findings link a novel SOX4 mutation to syndromic tooth agenesis in CSS. This is the first report of SOX4 missense mutation causing syndromic tooth agenesis.
CONCLUSIONS: This study not only enhances our understanding of the pathogenic mutation for syndromic tooth agenesis but also provides genetic diagnosis and potential therapeutic insights for syndromic tooth agenesis.

Dental agenesis is one of the most common developmental anomalies in humans and it is frequently associated with several other oral abnormalities. The present case describes non-familial agenesis of permanent teeth in a twenty-one-year-old boy with no apparent systemic abnormalities. The treatment included a personalized and interdisciplinary approach involving endodontics, orthodontics, implant-supported restorations and prosthetic treatments. The treatment plan was thoroughly elaborated using photographic analysis, study models, orthopantomogram, CBCT and cephalograms. Virtual smile design, diagnostic waxing and mock-ups previsualized the treatment objectives. The edentulous spaces were reconstructed by inserting dental implants and monolithic zirconia implant-supported restorations. The final results showed a highly esthetic and functional rehabilitation. Periodic check-ups have shown that the stability of the result is well maintained and that the implant-supported restorations are an optimal solution for patients with multiple anodontia.

BACKGROUND: The most common treatment approaches for patients missing maxillary lateral incisors are implant replacement (IT) and orthodontic space closure (SC). Treatment techniques change and improve over time, and it is of interest to know if improvements differ between the methods.
OBJECTIVE: To compare the aesthetic outcome and other clinical findings in patients with one or two missing maxillary lateral incisors who were treated with a 10-year difference in time, with either orthodontic space closure or implant replacement.
METHODS: A total of 88 patients were included in the study. Forty-four patients treated between 2011 and 2018 were included as the latter cohort (LC). The LC was compared to the early cohort (EC; n = 44), treated between 2001 and 2008. A total of 132 teeth was analysed: 62 teeth in the EC (28 teeth in IT cases and 34 teeth in SC cases) and 70 teeth in the LC (34 teeth in IT cases and 36 teeth in SC cases). Long-term clinical and aesthetic outcomes were evaluated.
RESULTS: An improvement over time was found in crown length, BoP, papilla, the inclination of incisors, and overall appearance in IT cases and in crown colour and overbite in SC cases. A deterioration over time was found in crown length and BoP among the SC cases.
CONCLUSIONS: Among the IT cases, an improvement in outcomes was noted over time. When comparing SC cases the colour of the crown and overbite had improved, while crown length and BoP had deteriorated over time.