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.

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.

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.

ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1\'s physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy. The disease is also associated with a complex range of other phenotypes impacting the cardiovascular, skeletal, pulmonary and nervous systems. Aberrant accumulation of extracellular matrix components and fibrosis are considered to be crucial components in the pathogenesis of GAPO syndrome, contributing to the shortened life expectancy of affected individuals. Nonetheless, the specific mechanisms connecting ANTXR1 deficiency to the clinical manifestations of GAPO syndrome are largely unexplored. In this study, we present evidence that ANTXR1 deficiency initiates a senescent phenotype in human fibroblasts, correlating with defects in nuclear architecture and actin dynamics. We provide novel insights into ANTXR1\'s physiological functions and propose GAPO syndrome to be reconsidered as a progeroid disorder highlighting an unexpected role for an integrin-like extracellular matrix receptor in human aging.

OBJECTIVE: This study aims to investigate the incidence and clinical characteristics of concomitant hypodontia and hyperdontia (CHH) by performing panoramic radiographs.
METHODS: A total of 41 648 panoramic radiographs of pediatric patients who were admitted to the hospitals from January 2019 to May 2021 were reviewed, and 145 CHH patients were included in the study. The presence of CHH was recorded. SPSS 24.0 software was used for statistical analysis.
RESULTS: The prevalence of CHH was 0.35% (145/41 648). Males (102 cases) were obviously more than females (43 cases), and the difference between genders was statistically significant (P<0.001). The features of congenital permanent tooth loss in this group were predominantly 1 and 2 teeth missing and preferably mandibular lateral incisors and mandibular second premolars missing. The incidence of congenital permanent teeth loss was higher in the mandible than in the maxilla (P<0.001), but no difference was found in the distribution between left and right (P=0.84). The features of supernumerary teeth in this group were 1 and 2 teeth, mostly in the maxillary anterior area, mostly conical, mostly vertical inversion and orthotopic growth.
CONCLUSIONS: CHH is a rare mixed numeric dental anomaly characterized by congenital missing teeth and supernumerary teeth occurring in the same individual. CHH cases are higher in men than in women. The characteristics of their hypodontia and hyperdontia are similar to those of patients with congenital permanent tooth absence or supernumerary teeth. Early diagnosis of the condition and a multidisciplinary approach for management of such case is recommended.
目的: 应用曲面体层技术探讨少牙多牙症（CHH）的发生率和临床特征。方法: 收集2019年1月—2021年5月就诊的41 648例儿童口腔科患者的曲面体层片，纳入CHH患者145例，观察记录CHH的发生情况。应用SPSS 24.0软件统计分析所得的数据。结果: CHH的发生率为0.35%（145/41 648），男性（102例）多于女性（43例），性别间差异有统计学意义（P<0.001）。恒牙先天缺失特征：缺失1~2颗为主；最好发下颌侧切牙和下颌第二前磨牙；下颌恒牙先天缺失多于上颌恒牙先天缺失，二者差异有统计学意义（P<0.001）；左侧先天缺失与右侧先天缺失差异无统计学意义（P=0.84）。多生牙特征：数目1~2颗；多见于上颌前牙区；多为圆锥形；垂直倒置生长和垂直正位生长为主。结论: CHH是一种少见的混合牙齿数目异常，男性多于女性，恒牙先天缺失和多生牙的特征与单独发生的恒牙先天缺失/多生牙的特征相似，建议早期诊断和多学科治疗。.

To describe a novel association of TGFBI variants with congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome, as well as among other unrelated cases of juvenile onset open-angle glaucoma (JOAG) and primary congenital glaucoma (PCG).
This study of one family of GAPO with congenital glaucoma and three unrelated patients with JOAG analyzed a common link to glaucoma pathogenesis. Three girls with GAPO syndrome born to consanguineous parents in a multi-generation consanguineous family were identified. Two of the girls had congenital glaucoma in both eyes, while the elder sibling (a 10-year-old female) had features of GAPO syndrome without glaucoma.
A genetic evaluation using whole exome sequencing revealed a novel homozygous ANTXR1 mutation in all three affected siblings with GAPO. No other mutations were detected in the genes associated with glaucoma. A rare missense variant in the TGFBI gene was shared in the two siblings with congenital glaucoma and GAPO syndrome. We found three other unrelated patients with JOAG and one patient with primary congenital glaucoma with no known glaucoma causing gene mutations, but having four different missense variants in the TGFBI gene. One of these patients with JOAG had familial granular corneal dystrophy. Molecular dynamic simulations of TGFBI and 3-D structural models of three of its variants showed significant alterations that could influence TGFBI protein function.
The possibility that variations in the TGFBI gene could have a possible role in the pathogenesis of congenital and juvenile onset open-angle glaucomas needs further evaluation.

BACKGROUND: Mutations in one or multiple genes can lead to hypodontia and its characteristic features. Numerous studies have shown a strong genetic influence on the occurrence of hypodontia, and identified several genes, including AXIN2, EDA, FGF3, FGFR2, FGFR10, WNT10A, MSX1, and PAX9, that are directly associated with dental agenesis and carcinogenesis. The objective of this study was to investigate the occurrence and pattern of tooth agenesis, microdontia, and palatally displaced canine (PDC) in women diagnosed with papillary thyroid cancer (PTC), compared to a control group of women without any malignancy or thyroid disease.
METHODS: This case-control study was carried at the Department of Orthodontics, School of Dental Medicine University of Zagreb, and Department of Oncology and Nuclear Medicine Sestre Milosrdnice University Hospital Centre. The study involved a clinical examination and evaluation of dental status, panoramic X-ray analysis, and assessment of medical and family history of 116 female patients aged 20-40 with PTC, as well as 424 females in the control group who were of similar age.
RESULTS: The prevalence of hypodontia, microdontia, and PDC was statistically higher in women with PTC than in the control group. The prevalence rate of hypodontia was 11.3% in the experimental group and 3.5% in the control group. The experimental group showed a higher occurrence of missing upper lateral incisors, lower left central incisors, and all the third molars (except the upper left) compared to the control group. Women with PTC showed the prevalence of PDC significantly higher than the control group (3.5%, 0.7%, p = 0.002). The probability of hypodontia as a clinical finding increases 2.6 times, and microdontia occurs 7.7 times more frequently in women with PTC.
CONCLUSIONS: Our study suggests a possible link between odontogenesis and PTC. The absence of permanent teeth may increase the likelihood of PTC in women. Leveraging the age-7 orthopantomogram to identify women at high risk for PTC within a critical early detection window could significantly improve oral health outcomes and PTC prognosis through proactive interventions.

OBJECTIVE: To provide references, this study investigated the clinical characteristics of patients with nonsyndromic oligodontia.
METHODS: The information of 178 patients with oligodontia was collected, including histories, oral examinations, and panoramic radiographs. Tooth agenesis characteristics were calculated and evaluated. All the data were statistically analyzed with SPSS 24.0 software.
RESULTS: No significant difference in the number of missing teeth was found between sexes nor between the right and left sides, and congenitally missing teeth affected the maxillary arch (P<0.05). The highest prevalence of tooth agenesis was observed in the mandibular second premolars. In the maxillary arch, the most common pattern of tooth agenesis was agenesis of the bilateral first and second premolars. The agenesis of the bilateral second premolars was observed in the mandibular arch. The prevalence of a symmetric pattern between the right and left quadrants was significantly higher than that of matched patterns between the maxillary and mandibular antagonistic quadrants. Approximately 16.85% of patients with nonsyndromic oligodontia were affected by other tooth-related anomalies.
CONCLUSIONS: The common patterns of tooth agenesis were successfully identified in patients with nonsyndromic oligodontia. Dentists need to provide multidisciplinary treatments for patients with nonsyndromic oligodontia because of variations in occluding and full-mouth tooth agenesis patterns.
目的: 研究和分析非综合征型多数恒牙先天缺失患者的牙齿缺失特征，为该类患者的临床诊断、治疗设计提供参考。方法: 收集178例非综合征型多数恒牙先天缺失病例，根据病史、口腔检查和曲面体层片等资料，研究分析牙齿缺失特征，应用SPSS 24.0统计软件对所得数据进行统计学分析。结果: 缺牙数目在性别、左右侧间无明显差异，上颌缺牙数明显高于下颌（P<0.05）。缺失率最高的牙位是下颌第二前磨牙。上颌最常见的缺牙模式为双侧上颌第一前磨牙、第二前磨牙联合缺失，下颌为双侧下颌第二前磨牙联合缺失。左右侧对称性分布的缺牙模式高于上下颌对称性分布。16.85%患者同时合并其他牙齿发育畸形。结论: 非综合征型多数恒牙先天缺失患者存在数种常见的缺牙模式，而咬合和全口缺牙模式变异较大，临床上应根据个体差异制定个性化的、多学科合作的治疗方案。.